Eichler, Florian
eCommons Login: FE6
first name: Florian
last name: Eichler
coauthor of: Seyedsadjadi, Reza
coauthor of: Musolino, Patricia
coauthor of: Nagy, Amanda
coauthor of: Williams, David
coauthor of: Stephen, Christopher
full name: Florian Eichler, M.D.
has faculty rank: Full Professor
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Person ID: 83582
person in primary position: Professor of Neurology
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similar to: Musolino, Patricia
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Position dependent changes of cerebral blood flow velocities in premature infants.
PubMed Identifier: 11686511
author list: Eichler F, Ipsiroglu O, Arif T, Popow C, Heinzl H, Urschitz M, Pollak A
published in: European journal of pediatrics
information resource reference: Position dependent changes of cerebral blood flow velocities in premature infants. Eur J Pediatr. 2001 Oct; 160(10):633-9.
journal title abbreviation: Eur J Pediatr
publication date: 2001-10-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1049896
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Authorship 1048805
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Gene Therapy for Cerebral Adrenoleukodystrophy.

Gene Therapy for Cerebral Adrenoleukodystrophy.
PubMed Identifier: 29385368
author list: Williams DA, Eichler F, Duncan C
published in: The New England journal of medicine
information resource reference: Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2018 02 01; 378(5):490-491.
journal title abbreviation: N Engl J Med
publication date: 2018-02-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
PubMed Identifier: 29484516
author list: Wong JC, Walsh K, Hayden D, Eichler FS
published in: Journal of inherited metabolic disease
information resource reference: Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018 07; 41(4):647-656.
journal title abbreviation: J Inherit Metab Dis
publication date: 2018-02-26T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Cerebral amyloid angiopathy and lobar intracerebral hemorrhage.
PubMed Identifier: 16401753
author list: Smith EE, Eichler F
published in: Archives of neurology
information resource reference: Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Arch Neurol. 2006 Jan; 63(1):148-51.
journal title abbreviation: Arch Neurol
publication date: 2006-01-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Cortical demyelination in PML and MS: Similarities and differences.
PubMed Identifier: 17914063
author list: Moll NM, Rietsch AM, Ransohoff AJ, Cossoy MB, Huang D, Eichler FS, Trapp BD, Ransohoff RM
published in: Neurology
information resource reference: Cortical demyelination in PML and MS: Similarities and differences. Neurology. 2008 Jan 29; 70(5):336-43.
journal title abbreviation: Neurology
publication date: 2008-01-29T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Leukodystrophies: classification, diagnosis, and treatment.
PubMed Identifier: 19901710
author list: Costello DJ, Eichler AF, Eichler FS
published in: The neurologist
information resource reference: Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov; 15(6):319-28.
journal title abbreviation: Neurologist
publication date: 2009-11-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
PubMed Identifier: 20097765
author list: Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH, von Eckardstein A, Hornemann T
published in: The Journal of biological chemistry
information resource reference: Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 09; 285(15):11178-87.
journal title abbreviation: J Biol Chem
publication date: 2010-01-22T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

A 57-year-old man with progressive neurologic decline
author list: Costello DJ, Eichler FS, Grant PE, Auluck PK
published in: NEJM
information resource reference: A 57-year-old man with progressive neurologic decline. NEJM. 2009; 360(2):171-81.
publication date: 2009-01-12T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.
PubMed Identifier: 18990132
author list: Schmahmann JD, Smith EE, Eichler FS, Filley CM
published in: Annals of the New York Academy of Sciences
information resource reference: Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci. 2008 Oct; 1142:266-309.
journal title abbreviation: Ann N Y Acad Sci
publication date: 2008-10-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline.
PubMed Identifier: 19129531
author list: Costello DJ, Eichler FS, Grant PE, Auluck PK
published in: The New England journal of medicine
information resource reference: Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline. N Engl J Med. 2009 Jan 08; 360(2):171-81.
journal title abbreviation: N Engl J Med
publication date: 2009-01-08T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.
PubMed Identifier: 22961546
author list: Musolino PL, Rapalino O, Caruso P, Caviness VS, Eichler FS
published in: Brain : a journal of neurology
information resource reference: Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy. Brain. 2012 Sep; 135(Pt 9):2676-83.
journal title abbreviation: Brain
publication date: 2012-09-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
PubMed Identifier: 23430877
author list: Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F
published in: JIMD reports
information resource reference: Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep. 2012; 3:79-82.
journal title abbreviation: JIMD Rep
publication date: 2011-09-16T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 11394
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience.

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
PubMed Identifier: 18571777
author list: Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB, Frosch MP, Ransohoff RM
published in: Annals of neurology
information resource reference: Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Ann Neurol. 2008 Jun; 63(6):729-42.
journal title abbreviation: Ann Neurol
publication date: 2008-06-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1083666
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Authorship 1084623
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

Authorship 1085201
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.

5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
PubMed Identifier: 30031689
author list: Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT
published in: Molecular genetics and metabolism
information resource reference: 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126.
journal title abbreviation: Mol Genet Metab
publication date: 2018-06-15T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
PubMed Identifier: 29397290
author list: Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA
published in: Molecular genetics and metabolism
information resource reference: Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346.
journal title abbreviation: Mol Genet Metab
publication date: 2018-01-31T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects.
author list: Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S
published in: Clinics of Perinatology
information resource reference: Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects. . Clinics of Perinatology. 1999; 26(4):905-46.
publication date: 1999-12-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
PubMed Identifier: 22522443
author list: Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N
published in: Annals of neurology
information resource reference: Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012 Apr; 71(4):520-30.
journal title abbreviation: Ann Neurol
publication date: 2012-04-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

A 5-month-old boy with developmental delay and irritability
author list: Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M.
published in: N Engl J Med.
information resource reference: A 5-month-old boy with developmental delay and irritability. N Engl J Med. 2010; 362(4):346-56.
publication date: 2010-01-28T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Imaging cerebral gene transcripts in live animals
author list: Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK
published in: Journal of Neuroscience
information resource reference: Imaging cerebral gene transcripts in live animals. Journal of Neuroscience. 2007; 27(3):713-22.
publication date: 2007-01-17T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1096575
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.

The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
PubMed Identifier: 30252065
author list: Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F
published in: The Journal of clinical endocrinology and metabolism
information resource reference: The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. J Clin Endocrinol Metab. 2019 01 01; 104(1):118-126.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2019-01-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/1119779
PubMed Identifier: 18450730
author list: Charnas L, Eichler F, Kohlschuetter A, Tolar J, Orchard PJ
published in: Haematologica
information resource reference: Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13. Haematologica. 2008 May; 93(5):e47; author reply e48.
journal title abbreviation: Haematologica
publication date: 2008-05-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13.

Authorship 1108016
type: Authorship
author rank in publication: 13
linked author: Eichler, Florian
linked information resource: Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy.

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy.
PubMed Identifier: 30358470
author list: Gong Y, Berenson A, Laheji F, Gao G, Wang D, Ng C, Volak A, Kok R, Kreouzis V, Dijkstra IM, Kemp S, Maguire CA, Eichler F
published in: Human gene therapy
information resource reference: Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy. Hum Gene Ther. 2019 05; 30(5):544-555.
journal title abbreviation: Hum Gene Ther
publication date: 2018-12-18T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 114038
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Position dependent changes of cerebral blood flow velocities in premature infants.

Imaging cerebral gene transcripts in live animals.
PubMed Identifier: 17234603
author list: Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK
published in: The Journal of neuroscience : the official journal of the Society for Neuroscience
information resource reference: Imaging cerebral gene transcripts in live animals. J Neurosci. 2007 Jan 17; 27(3):713-22.
journal title abbreviation: J Neurosci
publication date: 2007-01-17T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.
PubMed Identifier: 17502464
author list: Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV
published in: Archives of neurology
information resource reference: Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Arch Neurol. 2007 May; 64(5):659-64.
journal title abbreviation: Arch Neurol
publication date: 2007-05-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy.
PubMed Identifier: 19001168
author list: Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler F
published in: Archives of neurology
information resource reference: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 2008 Nov; 65(11):1488-94.
journal title abbreviation: Arch Neurol
publication date: 2008-11-01T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 108032
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis.

Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations
author list: Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Bley A, Kohlschuetter A, Kraegeloh-Mann I
published in: AJNR
information resource reference: Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR. 2009; 30(10):1893-7.
publication date: 2009-01-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1126709
type: Authorship
author rank in publication: 12
linked author: Eichler, Florian
linked information resource: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.

Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
PubMed Identifier: 30626650
author list: Fridman V, Suriyanarayanan S, Novak P, David W, Macklin EA, McKenna-Yasek D, Walsh K, Aziz-Bose R, Oaklander AL, Brown R, Hornemann T, Eichler F
published in: Neurology
information resource reference: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 2019 01 22; 92(4):e359-e370.
journal title abbreviation: Neurology
publication date: 2019-01-09T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Leukodystrophy, Metachromatic
MeSH DescriptorUI: D007966
MeSH semantic group name: Disorders
number of authors: 13
number of publications: 43
uniqueness weight: 0.94815
type: Concept

Authorship 1144949
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
PubMed Identifier: 30902905
author list: Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
published in: Neurology
information resource reference: MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. Neurology. 2019 04 09; 92(15):e1698-e1708.
journal title abbreviation: Neurology
publication date: 2019-03-22T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic Vectors
MeSH DescriptorUI: D005822
MeSH semantic group name: Chemicals & Drugs
MeSH semantic group name: Living Beings
number of authors: 1068
number of publications: 3503
uniqueness weight: 0.490677
type: Concept

Gangliosidoses, GM2
MeSH DescriptorUI: D020143
MeSH semantic group name: Disorders
number of authors: 10
number of publications: 25
uniqueness weight: 0.958112
type: Concept

Adrenoleukodystrophy
MeSH DescriptorUI: D000326
MeSH semantic group name: Disorders
number of authors: 49
number of publications: 148
uniqueness weight: 0.830712
type: Concept

Hereditary Sensory and Autonomic Neuropathies
MeSH DescriptorUI: D009477
MeSH semantic group name: Disorders
number of authors: 26
number of publications: 45
uniqueness weight: 0.953353
type: Concept

Neurology
type: Department
type: Organization

Pediatrics
type: Department
type: Organization

Hematology/Oncology
type: Division
type: Organization

Genetics
type: Division
type: Organization

Boston Children's Hospital
type: Organization

Dana-Farber Cancer Institute
type: Organization

Massachusetts General Hospital
type: Organization

Schambach, Axel
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first name: Axel
last name: Schambach
full name: Axel Schambach, Ph.D.
has faculty rank: Lecturer
Person ID: 106236
person in primary position: Lecturer on Pediatrics, Part-time
type: Agent
type: Person
preferred title: Lecturer on Pediatrics, Part-time

Dietrich, Jorg
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first name: Jorg
last name: Dietrich
full name: Jorg Dietrich, M.D.,Ph.D.
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Person ID: 41197
person in primary position: Associate Professor of Neurology
type: Agent
type: Person
preferred title: Associate Professor of Neurology

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Arrillaga-Romany, Isabel
eCommons Login: ICA4
first name: Isabel
last name: Arrillaga-Romany
full name: Isabel Arrillaga-Romany, M.D.
has faculty rank: Assistant Professor
latitude: 42.36241700000000
longitude: -71.06893700000000
Person ID: 999
person in primary position: Assistant Professor of Neurology
type: Agent
type: Person
preferred title: Assistant Professor of Neurology

Williams, David
eCommons Login: DAW26
first name: David
last name: Williams
full name: David Allan Williams, M.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 57622
person in primary position: Leland Fikes Professor of Pediatrics
type: Agent
type: Person
preferred title: Leland Fikes Professor of Pediatrics

Mejia, Nicte
eCommons Login: NIM3
first name: Nicte
last name: Mejia
full name: Nicte Itzel Mejia, M.D.
has faculty rank: Associate Professor
latitude: 42.36241700000000
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Person ID: 15224
person in primary position: Associate Professor of Neurology
type: Agent
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preferred title: Associate Professor of Neurology

Alkuraya, Fowzan
eCommons Login: FSA2
first name: Fowzan
last name: Alkuraya
full name: Fowzan Sami Alkuraya, M.B.,B.S.
has faculty rank: Instructor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 41121
person in primary position: Instructor in Pediatrics
type: Agent
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preferred title: Instructor in Pediatrics

Bowley, Michael
eCommons Login: MB234
first name: Michael
last name: Bowley
full name: Michael Bowley, M.D.,Ph.D.
has faculty rank: Assistant Professor
latitude: 42.36241700000000
longitude: -71.06893700000000
Person ID: 36602
person in primary position: Assistant Professor of Neurology
type: Agent
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preferred title: Assistant Professor of Neurology

Musolino, Patricia
eCommons Login: PLM8
first name: Patricia
last name: Musolino
full name: Patricia Leonor Musolino, M.D., Ph.D.
has faculty rank: Associate Professor
latitude: 42.36241700000000
longitude: -71.06893700000000
Person ID: 83134
person in primary position: Associate Professor of Neurology
type: Agent
type: Person
preferred title: Associate Professor of Neurology

Stephen, Christopher
eCommons Login: CDS23
first name: Christopher
last name: Stephen
full name: Christopher David Stephen, M.D.
has faculty rank: Assistant Professor
latitude: 42.34022770000000
longitude: -71.10585400000000
Person ID: 92360
person in primary position: Assistant Professor of Neurology
type: Agent
type: Person
preferred title: Assistant Professor of Neurology

Authorship 1189539
type: Authorship
author rank in publication: 26
linked author: Eichler, Florian
linked information resource: Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
PubMed Identifier: 31509666
author list: Gantner ML, Eade K, Wallace M, Handzlik MK, Fallon R, Trombley J, Bonelli R, Giles S, Harkins-Perry S, Heeren TFC, Sauer L, Ideguchi Y, Baldini M, Scheppke L, Dorrell MI, Kitano M, Hart BJ, Cai C, Nagasaki T, Badur MG, Okada M, Woods SM, Egan C, Gillies M, Guymer R, Eichler F, Bahlo M, Fruttiger M, Allikmets R, Bernstein PS, Metallo CM, Friedlander M
published in: The New England journal of medicine
information resource reference: Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. N Engl J Med. 2019 10 10; 381(15):1422-1433.
journal title abbreviation: N Engl J Med
publication date: 2019-09-11T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1197184
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: Clinical myopathy in patients with nephropathic cystinosis.

Authorship 1196493
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: [Survival results after 10 years of 39 patients with inflammatory breast cancer treated by two different neoadjuvant chemotherapy protocols].

Authorship 1198585
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

[Survival results after 10 years of 39 patients with inflammatory breast cancer treated by two different neoadjuvant chemotherapy protocols].
PubMed Identifier: 8695926
author list: Eichler F, Keiling R
published in: Bulletin du cancer
information resource reference: [Survival results after 10 years of 39 patients with inflammatory breast cancer treated by two different neoadjuvant chemotherapy protocols]. Bull Cancer. 1996 Mar; 83(3):234-8.
journal title abbreviation: Bull Cancer
publication date: 1996-03-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
PubMed Identifier: 30017468
author list: Duell PB, Salen G, Eichler FS, DeBarber AE, Connor SL, Casaday L, Jayadev S, Kisanuki Y, Lekprasert P, Malloy MJ, Ramdhani RA, Ziajka PE, Quinn JF, Su KG, Geller AS, Diffenderfer MR, Schaefer EJ
published in: Journal of clinical lipidology
information resource reference: Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol. 2018 Sep - Oct; 12(5):1169-1178.
journal title abbreviation: J Clin Lipidol
publication date: 2018-06-22T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical myopathy in patients with nephropathic cystinosis.
PubMed Identifier: 31588568
author list: Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Duong R, Corre C, David W, Eichler F
published in: Muscle & nerve
information resource reference: Clinical myopathy in patients with nephropathic cystinosis. Muscle Nerve. 2020 01; 61(1):74-80.
journal title abbreviation: Muscle Nerve
publication date: 2019-10-24T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Lecturer on Pediatrics, Part-time
is primary position: true
position in department: Pediatrics
position in division: Hematology/Oncology
sort order: 1
type: Position
HR job title: Lecturer on Pediatrics, Part-time
position in organization: Dana-Farber Cancer Institute

Authorship 126803
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

Authorship 115557
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Imaging cerebral gene transcripts in live animals.

Authorship 1209502
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.

The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.
PubMed Identifier: 31768791
author list: Mallack EJ, Turk B, Yan H, Eichler FS
published in: Current treatment options in neurology
information resource reference: The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy. Curr Treat Options Neurol. 2019 Nov 25; 21(12):61.
journal title abbreviation: Curr Treat Options Neurol
publication date: 2019-11-25T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)
end date: 2030-08-31
principal investigator name: VANDERVER, ADELINE LUCIE
start date: 2019-09-30
type: Grant
sponsor award id: U54NS115052

Co-Principal Investigator
type: Researcher Role
researcher role of: Eichler, Florian
contributes to: Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)

Authorship 1220610
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.
PubMed Identifier: 31964693
author list: Stephen CD, Balkwill D, James P, Haxton E, Sassower K, Schmahmann JD, Eichler F, Lewis R
published in: Neurology
information resource reference: Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. Neurology. 2020 02 18; 94(7):e705-e717.
journal title abbreviation: Neurology
publication date: 2020-01-21T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 122814
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

Authorship 1234468
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Genetic and regulatory aspects of methionine biosynthesis in Saccharomyces cerevisiae.

Genetic and regulatory aspects of methionine biosynthesis in Saccharomyces cerevisiae.
PubMed Identifier: 5764336
author list: Cherest H, Eichler F, Robichon-Szulmajster H
published in: Journal of bacteriology
information resource reference: Genetic and regulatory aspects of methionine biosynthesis in Saccharomyces cerevisiae. J Bacteriol. 1969 Jan; 97(1):328-36.
journal title abbreviation: J Bacteriol
publication date: 1969-01-01T00:00:00
year: 1969
type: Academic Article
type: Article
type: Document
type: Information Resource

The Changing Face of Adrenoleukodystrophy.
PubMed Identifier: 32364223
author list: Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA
published in: Endocrine reviews
information resource reference: The Changing Face of Adrenoleukodystrophy. Endocr Rev. 2020 08 01; 41(4).
journal title abbreviation: Endocr Rev
publication date: 2020-08-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1245282
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: The Changing Face of Adrenoleukodystrophy.

Authorship 1253043
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.

Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.
PubMed Identifier: 32482842
author list: Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS
published in: Neurology
information resource reference: Clinical and radiographic course of arrested cerebral adrenoleukodystrophy. Neurology. 2020 06 16; 94(24):e2499-e2507.
journal title abbreviation: Neurology
publication date: 2020-06-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 139200
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.

Authorship 1270870
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.

Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.
PubMed Identifier: 32737993
author list: Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Corre C, Mello N, David WS, Eichler F
published in: Muscle & nerve
information resource reference: Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis. Muscle Nerve. 2020 12; 62(6):681-687.
journal title abbreviation: Muscle Nerve
publication date: 2020-08-20T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1278529
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.
PubMed Identifier: 32802950
author list: Misko AL, Liang Y, Kohl JB, Eichler F
published in: Neurology. Genetics
information resource reference: Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020 Aug; 6(4):e486.
journal title abbreviation: Neurol Genet
publication date: 2020-07-14T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1282725
type: Authorship
author rank in publication: 22
linked author: Eichler, Florian
linked information resource: Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
PubMed Identifier: 32875938
author list: Keller SR, Mallack EJ, Rubin JP, Accardo JA, Brault JA, Corre CS, Elizondo C, Garafola J, Jackson-Garcia AC, Rhee J, Seeger E, Shullanberger KC, Tourjee A, Trovato MK, Waldman AT, Wallace JL, Wallace MR, Werner K, White A, Ess KC, Becker C, Eichler FS
published in: Journal of child neurology
information resource reference: Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies. J Child Neurol. 2021 01; 36(1):65-78.
journal title abbreviation: J Child Neurol
publication date: 2020-09-02T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 140212
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Cerebral amyloid angiopathy and lobar intracerebral hemorrhage.

Unusual Behaviors in a 7-year-old Boy.
PubMed Identifier: 33386381
author list: Chang L, Shao DD, Eichler FS, Srivastava S
published in: Pediatrics in review
information resource reference: Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125.
journal title abbreviation: Pediatr Rev
publication date: 2021-01-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1314516
type: Authorship
author rank in publication: 22
linked author: Eichler, Florian
linked information resource: MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.

Authorship 1315131
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Unusual Behaviors in a 7-year-old Boy.

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
PubMed Identifier: 33373467
author list: Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A
published in: Journal of inherited metabolic disease
information resource reference: MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines. J Inherit Metab Dis. 2021 05; 44(3):728-739.
journal title abbreviation: J Inherit Metab Dis
publication date: 2021-01-09T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1316763
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.

Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.
PubMed Identifier: 33407709
author list: Corre CS, Grant N, Sadjadi R, Hayden D, Becker C, Gomery P, Eichler FS
published in: Orphanet journal of rare diseases
information resource reference: Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy. Orphanet J Rare Dis. 2021 01 06; 16(1):14.
journal title abbreviation: Orphanet J Rare Dis
publication date: 2021-01-06T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 193789
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Immune response in leukodystrophies.

Authorship 1337251
type: Authorship
author rank in publication: 14
linked author: Eichler, Florian
linked information resource: Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
PubMed Identifier: 33690217
author list: Raas Q, van de Beek MC, Forss-Petter S, Dijkstra IM, Deschiffart A, Freshner BC, Stevenson TJ, Jaspers YR, Nagtzaam L, Wanders RJ, van Weeghel M, Engelen-Lee JY, Engelen M, Eichler F, Berger J, Bonkowsky JL, Kemp S
published in: The Journal of clinical investigation
information resource reference: Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy. J Clin Invest. 2021 04 15; 131(8).
journal title abbreviation: J Clin Invest
publication date: 2021-04-15T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1341073
type: Authorship
author rank in publication: 13
linked author: Eichler, Florian
linked information resource: Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
PubMed Identifier: 33753741
author list: Weinhofer I, Rommer P, Zierfuss B, Altmann P, Foiani M, Heslegrave A, Zetterberg H, Gleiss A, Musolino PL, Gong Y, Forss-Petter S, Berger T, Eichler F, Aubourg P, Köhler W, Berger J
published in: Nature communications
information resource reference: Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy. Nat Commun. 2021 03 22; 12(1):1816.
journal title abbreviation: Nat Commun
publication date: 2021-03-22T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 161813
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy.

Authorship 1355248
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
PubMed Identifier: 34011350
author list: Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS
published in: Orphanet journal of rare diseases
information resource reference: The natural history of Canavan disease: 23 new cases and comparison with patients from literature. Orphanet J Rare Dis. 2021 05 19; 16(1):227.
journal title abbreviation: Orphanet J Rare Dis
publication date: 2021-05-19T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1364583
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: The AAV9 Variant Capsid AAV-F Mediates Widespread Transgene Expression in Nonhuman Primate Spinal Cord After Intrathecal Administration.

The AAV9 Variant Capsid AAV-F Mediates Widespread Transgene Expression in Nonhuman Primate Spinal Cord After Intrathecal Administration.
PubMed Identifier: 34128391
author list: Beharry A, Gong Y, Kim JC, Hanlon KS, Nammour J, Hieber K, Eichler F, Cheng M, Stemmer-Rachamimov A, Stankovic KM, Welling DB, Ng C, Maguire CA
published in: Human gene therapy
information resource reference: The AAV9 Variant Capsid AAV-F Mediates Widespread Transgene Expression in Nonhuman Primate Spinal Cord After Intrathecal Administration. Hum Gene Ther. 2022 01; 33(1-2):61-75.
journal title abbreviation: Hum Gene Ther
publication date: 2021-08-26T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1372461
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Authorship 1371233
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: Gait Difficulties and Postural Instability in Adrenoleukodystrophy.

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
PubMed Identifier: 34226107
author list: Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM
published in: Molecular genetics and metabolism
information resource reference: Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. Mol Genet Metab. 2021 08; 133(4):386-396.
journal title abbreviation: Mol Genet Metab
publication date: 2021-06-24T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Gait Difficulties and Postural Instability in Adrenoleukodystrophy.
PubMed Identifier: 34220690
author list: Godbole NP, Sadjadi R, DeBono MA, Grant NR, Kelly DC, James PF, Stephen CD, Balkwill MD, Lewis RF, Eichler FS
published in: Frontiers in neurology
information resource reference: Gait Difficulties and Postural Instability in Adrenoleukodystrophy. Front Neurol. 2021; 12:684102.
journal title abbreviation: Front Neurol
publication date: 2021-06-17T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1375190
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Endocrine dysfunction in adrenoleukodystrophy.

Endocrine dysfunction in adrenoleukodystrophy.
PubMed Identifier: 34266597
author list: Engelen M, Kemp S, Eichler F
published in: Handbook of clinical neurology
information resource reference: Endocrine dysfunction in adrenoleukodystrophy. Handb Clin Neurol. 2021; 182:257-267.
journal title abbreviation: Handb Clin Neurol
publication date: 2021-01-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1388924
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Neutralizing Antibody Evasion and Transduction with Purified Extracellular Vesicle-Enveloped Adeno-Associated Virus Vectors.

Neutralizing Antibody Evasion and Transduction with Purified Extracellular Vesicle-Enveloped Adeno-Associated Virus Vectors.
PubMed Identifier: 34445894
author list: Cheng M, Dietz L, Gong Y, Eichler F, Nammour J, Ng C, Grimm D, Maguire CA
published in: Human gene therapy
information resource reference: Neutralizing Antibody Evasion and Transduction with Purified Extracellular Vesicle-Enveloped Adeno-Associated Virus Vectors. Hum Gene Ther. 2021 12; 32(23-24):1457-1470.
journal title abbreviation: Hum Gene Ther
publication date: 2021-12-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1393008
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.

A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.
PubMed Identifier: 34503945
author list: Mallack EJ, Askin G, van de Stadt S, Caruso PA, Musolino PL, Engelen M, Niogi SN, Eichler FS
published in: AJNR. American journal of neuroradiology
information resource reference: A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy. AJNR Am J Neuroradiol. 2021 10; 42(10):1904-1911.
journal title abbreviation: AJNR Am J Neuroradiol
publication date: 2021-09-09T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1431577
type: Authorship
author rank in publication: 26
linked author: Eichler, Florian
linked information resource: AAV gene therapy for Tay-Sachs disease.

AAV gene therapy for Tay-Sachs disease.
PubMed Identifier: 35145305
author list: Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH, Martin DR, Gray-Edwards HL, Sena-Esteves M
published in: Nature medicine
information resource reference: AAV gene therapy for Tay-Sachs disease. Nat Med. 2022 02; 28(2):251-259.
journal title abbreviation: Nat Med
publication date: 2022-02-10T00:00:00
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Authorship 1440425
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author rank in publication: 15
linked author: Eichler, Florian
linked information resource: Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.

Authorship 1442956
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: Restless Legs Syndrome in X-linked adrenoleukodystrophy.

Restless Legs Syndrome in X-linked adrenoleukodystrophy.
PubMed Identifier: 35245789
author list: Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS
published in: Sleep medicine
information resource reference: Restless Legs Syndrome in X-linked adrenoleukodystrophy. Sleep Med. 2022 03; 91:31-34.
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publication date: 2022-02-16T00:00:00
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Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
PubMed Identifier: 35185751
author list: Papapetropoulos S, Pontius A, Finger E, Karrenbauer V, Lynch DS, Brennan M, Zappia S, Koehler W, Schoels L, Hayer SN, Konno T, Ikeuchi T, Lund T, Orthmann-Murphy J, Eichler F, Wszolek ZK
published in: Frontiers in neurology
information resource reference: Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development. Front Neurol. 2021; 12:788168.
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Authorship 1447005
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
PubMed Identifier: 35425852
author list: Misko AL, Wood LB, DeBono M, Oberman R, Raas-Rothschild A, Grishchuk Y, Eichler F
published in: Neurology. Genetics
information resource reference: Cross-sectional Observations on the Natural History of Mucolipidosis Type IV. Neurol Genet. 2022 Apr; 8(2):e662.
journal title abbreviation: Neurol Genet
publication date: 2022-03-10T00:00:00
year: 2022
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Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
PubMed Identifier: 35681537
author list: Gong Y, Laheji F, Berenson A, Qian A, Park SO, Kok R, Selig M, Hahn R, Sadjadi R, Kemp S, Eichler F
published in: Cells
information resource reference: Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia. Cells. 2022 06 04; 11(11).
journal title abbreviation: Cells
publication date: 2022-06-04T00:00:00
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Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T.
PubMed Identifier: 35621349
author list: Sveinsson B, Rowe OE, Stockmann JP, Park DJ, Lally PJ, Rosen MS, Barry RL, Eichler F, Rosen BR, Sadjadi R
published in: Muscle & nerve
information resource reference: Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T. Muscle Nerve. 2022 08; 66(2):206-211.
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publication date: 2022-06-13T00:00:00
year: 2022
type: Academic Article
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Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
PubMed Identifier: 35616433
author list: Sullivan S, Grant N, Hammond C, David WS, Eichler F, Sadjadi R
published in: Muscle & nerve
information resource reference: Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile. Muscle Nerve. 2022 08; 66(2):223-226.
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publication date: 2022-06-10T00:00:00
year: 2022
type: Academic Article
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type: Information Resource

Authorship 1460452
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Feasibility of simultaneous high-resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot-Marie-Tooth type 1A (CMT1A) at 7T.

Authorship 1466231
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author rank in publication: 11
linked author: Eichler, Florian
linked information resource: Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.

Authorship 1458012
type: Authorship
author rank in publication: 5
linked author: Eichler, Florian
linked information resource: Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.

Authorship 1462064
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment.

Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment.
PubMed Identifier: 35609989
author list: Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS
published in: Neurology
information resource reference: Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment. Neurology. 2022 Aug 01; 99(5):e512-e520.
journal title abbreviation: Neurology
publication date: 2022-08-01T00:00:00
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The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
PubMed Identifier: 36315648
author list: Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D
published in: Brain : a journal of neurology
information resource reference: The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015.
journal title abbreviation: Brain
publication date: 2023-05-02T00:00:00
year: 2023
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type: Document
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Authorship 1501850
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.

Authorship 1493996
type: Authorship
author rank in publication: 25
linked author: Eichler, Florian
linked information resource: The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

Authorship 1499305
type: Authorship
author rank in publication: 12
linked author: Eichler, Florian
linked information resource: Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.

Authorship 1500975
type: Authorship
author rank in publication: 27
linked author: Eichler, Florian
linked information resource: International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
PubMed Identifier: 36175155
author list: Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC
published in: Neurology
information resource reference: International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach. Neurology. 2022 11 22; 99(21):940-951.
journal title abbreviation: Neurology
publication date: 2022-09-29T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
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Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.
PubMed Identifier: 36085307
author list: Weinhofer I, Buda A, Kunze M, Palfi Z, Traunfellner M, Hesse S, Villoria-Gonzalez A, Hofmann J, Hametner S, Regelsberger G, Moser AB, Eichler F, Kemp S, Bauer J, Kühl JS, Forss-Petter S, Berger J
published in: Communications biology
information resource reference: Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response. Commun Biol. 2022 09 09; 5(1):944.
journal title abbreviation: Commun Biol
publication date: 2022-09-09T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.
PubMed Identifier: 36195888
author list: Eichler F, Sevin C, Barth M, Pang F, Howie K, Walz M, Wilds A, Calcagni C, Chanson C, Campbell L
published in: Orphanet journal of rare diseases
information resource reference: Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy. Orphanet J Rare Dis. 2022 10 04; 17(1):370.
journal title abbreviation: Orphanet J Rare Dis
publication date: 2022-10-04T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1505269
type: Authorship
author rank in publication: 15
linked author: Eichler, Florian
linked information resource: FOXP3 expression in cancer cells and anthracyclines efficacy in patients with primary breast cancer treated with adjuvant chemotherapy in the phase III UNICANCER-PACS 01 trial.

Authorship 1506011
type: Authorship
author rank in publication: 17
linked author: Eichler, Florian
linked information resource: CSF and Blood Levels of GFAP in Alexander Disease

CSF and Blood Levels of GFAP in Alexander Disease
PubMed Identifier: 26478912
author list: Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Köehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A
published in: eNeuro
information resource reference: CSF and Blood Levels of GFAP in Alexander Disease eNeuro. 2015 09; 2(5).
journal title abbreviation: eNeuro
publication date: 2015-10-01T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

FOXP3 expression in cancer cells and anthracyclines efficacy in patients with primary breast cancer treated with adjuvant chemotherapy in the phase III UNICANCER-PACS 01 trial.
PubMed Identifier: 22431701
author list: Ladoire S, Mignot G, Dalban C, Chevriaux A, Arnould L, Rébé C, Apetoh L, Boidot R, Penault-Llorca F, Fumoleau P, Roché H, Spielmann M, Levy C, Lortholary A, Eichler F, Mesleard C, Bonnetain F, Ghiringhelli F
published in: Annals of oncology : official journal of the European Society for Medical Oncology
information resource reference: FOXP3 expression in cancer cells and anthracyclines efficacy in patients with primary breast cancer treated with adjuvant chemotherapy in the phase III UNICANCER-PACS 01 trial. Ann Oncol. 2012 Oct; 23(10):2552-2561.
journal title abbreviation: Ann Oncol
publication date: 2012-03-19T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1514120
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Long-term effects of l-serine supplementation upon a mouse model of diabetic neuropathy.

Long-term effects of l-serine supplementation upon a mouse model of diabetic neuropathy.
PubMed Identifier: 36610321
author list: Xia C, Suriyanarayanan S, Gong Y, Fridman V, Selig M, Li J, Rutkove S, Hornemann T, Eichler F
published in: Journal of diabetes and its complications
information resource reference: Long-term effects of l-serine supplementation upon a mouse model of diabetic neuropathy. J Diabetes Complications. 2023 02; 37(2):108383.
journal title abbreviation: J Diabetes Complications
publication date: 2022-12-10T00:00:00
year: 2022
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1520178
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
PubMed Identifier: 36681445
author list: Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F
published in: The Lancet. Neurology
information resource reference: Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial. Lancet Neurol. 2023 02; 22(2):127-136.
journal title abbreviation: Lancet Neurol
publication date: 2023-02-01T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1521554
type: Authorship
author rank in publication: 26
linked author: Eichler, Florian
linked information resource: SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
PubMed Identifier: 36718090
author list: Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM
published in: Brain : a journal of neurology
information resource reference: SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435.
journal title abbreviation: Brain
publication date: 2023-04-19T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 194599
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Childhood leukodystrophies: a clinical perspective.

Authorship 476512
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: Natural history of infantile G(M2) gangliosidosis.

Professor of Neurology
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position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Neurology
position in organization: Massachusetts General Hospital

Instructor in Neurology
is primary position: true
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position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: Instructor in Neurology
position in organization: Massachusetts General Hospital

Authorship 268363
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy.

Authorship 1566559
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Authorship 1559003
type: Authorship
author rank in publication: 17
linked author: Eichler, Florian
linked information resource: Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.
PubMed Identifier: 37019892
author list: Lauer A, Speroni SL, Choi M, Da X, Duncan C, McCarthy S, Krishnan V, Lusk CA, Rohde D, Hansen MB, Kalpathy-Cramer J, Loes DJ, Caruso PA, Williams DA, Mouridsen K, Emblem KE, Eichler FS, Musolino PL
published in: Nature communications
information resource reference: Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy. Nat Commun. 2023 04 05; 14(1):1900.
journal title abbreviation: Nat Commun
publication date: 2023-04-05T00:00:00
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type: Academic Article
type: Article
type: Document
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Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
PubMed Identifier: 37220095
author list: Ramirez Alcantara J, Grant NR, Sethuram S, Nagy A, Becker C, Sahai I, Stanley T, Halper A, Eichler FS
published in: The Journal of clinical endocrinology and metabolism
information resource reference: Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy. J Clin Endocrinol Metab. 2023 10 18; 108(11):e1306-e1315.
journal title abbreviation: J Clin Endocrinol Metab
publication date: 2023-10-18T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1592198
type: Authorship
author rank in publication: 21
linked author: Eichler, Florian
linked information resource: Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
PubMed Identifier: 37683329
author list: Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J
published in: EBioMedicine
information resource reference: Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy. EBioMedicine. 2023 Oct; 96:104781.
journal title abbreviation: EBioMedicine
publication date: 2023-09-07T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Associate Professor of Neurology
is primary position: true
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position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
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HR job title: Associate Professor of Neurology
position in organization: Massachusetts General Hospital

Authorship 1611131
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
PubMed Identifier: 38009419
author list: Godbole NP, Haxton E, Rowe OE, Locascio JJ, Schmahmann JD, Eichler FS, Ratai EM, Stephen CD
published in: Annals of clinical and translational neurology
information resource reference: Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review. Ann Clin Transl Neurol. 2024 01; 11(1):207-224.
journal title abbreviation: Ann Clin Transl Neurol
publication date: 2023-11-27T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1613280
type: Authorship
author rank in publication: 11
linked author: Eichler, Florian
linked information resource: Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
PubMed Identifier: 38062617
author list: Gong Y, Laheji F, Berenson A, Li Y, Moser A, Qian A, Frosch M, Sadjadi R, Hahn R, Maguire CA, Eichler F
published in: Annals of neurology
information resource reference: Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans. Ann Neurol. 2024 Mar; 95(3):442-458.
journal title abbreviation: Ann Neurol
publication date: 2023-12-26T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1632277
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis.

Authorship 1632746
type: Authorship
author rank in publication: 15
linked author: Eichler, Florian
linked information resource: The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
PubMed Identifier: 38378692
author list: Nagy A, Molay F, Hargadon S, Brito Pires C, Grant N, De La Rosa Abreu L, Chen JY, D'Souza P, Macnamara E, Tifft C, Becker C, Melo De Gusmao C, Khurana V, Neumeyer AM, Eichler FS
published in: Orphanet journal of rare diseases
information resource reference: The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects. Orphanet J Rare Dis. 2024 Feb 20; 19(1):79.
journal title abbreviation: Orphanet J Rare Dis
publication date: 2024-02-20T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1636341
type: Authorship
author rank in publication: 21
linked author: Eichler, Florian
linked information resource: Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
PubMed Identifier: 38522179
author list: Adang LA, Sevagamoorthy A, Sherbini O, Fraser JL, Bonkowsky JL, Gavazzi F, D'Aiello R, Modesti NB, Yu E, Mutua S, Kotes E, Shults J, Vincent A, Emrick LT, Keller S, Van Haren KP, Woidill S, Barcelos I, Pizzino A, Schmidt JL, Eichler F, Fatemi A, Vanderver A
published in: Molecular genetics and metabolism
information resource reference: Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach. Mol Genet Metab. 2024 May; 142(1):108453.
journal title abbreviation: Mol Genet Metab
publication date: 2024-03-18T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1642417
type: Authorship
author rank in publication: 11
linked author: Eichler, Florian
linked information resource: Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
PubMed Identifier: 38554683
author list: Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S
published in: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
information resource reference: Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol. 2024 Mar; 49:141-154.
journal title abbreviation: Eur J Paediatr Neurol
publication date: 2024-03-09T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
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Authorship 1650918
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

Authorship 1654656
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin?

Authorship 1654267
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function.

Authorship 1646952
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.

Authorship 1653272
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.

Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function.
PubMed Identifier: 38659405
author list: Kiefer M, Simione M, Eichler FS, Townsend EL
published in: Journal of child neurology
information resource reference: Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function. J Child Neurol. 2024 May; 39(5-6):161-170.
journal title abbreviation: J Child Neurol
publication date: 2024-04-25T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin?
PubMed Identifier: 38776907
author list: Gong Y, Eichler FS
published in: Molecular therapy : the journal of the American Society of Gene Therapy
information resource reference: Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin? Mol Ther. 2024 Jun 05; 32(6):1602-1603.
journal title abbreviation: Mol Ther
publication date: 2024-05-21T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
PubMed Identifier: 38788085
author list: Mohassel P, Abdullah M, Eichler FS, Dunn TM
published in: Journal of neuromuscular diseases
information resource reference: Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders. J Neuromuscul Dis. 2024; 11(4):735-747.
journal title abbreviation: J Neuromuscul Dis
publication date: 2024-01-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
PubMed Identifier: 38718669
author list: Posern C, Dreyer B, Maier SL, Eichler F, Gelb MH, Santer R, Bley A, Murko S
published in: Molecular genetics and metabolism
information resource reference: Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease. Mol Genet Metab. 2024 Jun; 142(2):108489.
journal title abbreviation: Mol Genet Metab
publication date: 2024-05-03T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
PubMed Identifier: 38613540
author list: Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A
published in: Cytotherapy
information resource reference: Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul; 26(7):739-748.
journal title abbreviation: Cytotherapy
publication date: 2024-04-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1662270
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
PubMed Identifier: 38870773
author list: Kissell J, Rochmann C, Minini P, Eichler F, Stephen CD, Lau H, Toro C, Johnston JM, Krupnick R, Hamed A, Cox GF
published in: Molecular genetics and metabolism
information resource reference: Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. Mol Genet Metab. 2024 Jul; 142(3):108512.
journal title abbreviation: Mol Genet Metab
publication date: 2024-06-06T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1664043
type: Authorship
author rank in publication: 17
linked author: Eichler, Florian
linked information resource: Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
PubMed Identifier: 38964050
author list: Adang LA, Groeschel S, Grzyb C, D'Aiello R, Gavazzi F, Sherbini O, Bronner N, Patel A, Vincent A, Sevagamoorthy A, Mutua S, Muirhead K, Schmidt J, Pizzino A, Yu E, Jin D, Eichler F, Fraser JL, Emrick L, Van Haren K, Boulanger JM, Ruzhnikov M, Sylvain M, Nguyen CÉ, Potic A, Keller S, Fatemi A, Uebergang E, Poe M, Yazdani PA, Bernat J, Lindstrom K, Bonkowsky JL, Bernard G, Stutterd CA, Orchard P, Gupta AO, Ljungberg M, Groenborg S, Zambon A, Locatelli S, Fumagalli F, Elguen S, Kehrer C, Krägeloh-Mann I, Shults J, Vanderver A, Escolar ML
published in: Molecular genetics and metabolism
information resource reference: Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Mol Genet Metab. 2024 Aug; 142(4):108521.
journal title abbreviation: Mol Genet Metab
publication date: 2024-06-29T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Associate Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Associate Professor of Neurology
position in organization: Massachusetts General Hospital

Authorship 1667707
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.

Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.
PubMed Identifier: 39020416
author list: Bonkowsky JL, Healey B, Sacks NC, McLin R, Cyr PL, Sawyer EK, Stephen CD, Eichler F
published in: Orphanet journal of rare diseases
information resource reference: Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study. Orphanet J Rare Dis. 2024 Jul 17; 19(1):270.
journal title abbreviation: Orphanet J Rare Dis
publication date: 2024-07-17T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases.
PubMed Identifier: 39039307
author list: Ferreira da Silva J, Tou CJ, King EM, Eller ML, Rufino-Ramos D, Ma L, Cromwell CR, Metovic J, Benning FMC, Chao LH, Eichler FS, Kleinstiver BP
published in: Nature biotechnology
information resource reference: Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases. Nat Biotechnol. 2025 Jun; 43(6):923-935.
journal title abbreviation: Nat Biotechnol
publication date: 2024-07-22T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1668398
type: Authorship
author rank in publication: 11
linked author: Eichler, Florian
linked information resource: Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases.

Assistant Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Neurology
position in organization: Massachusetts General Hospital

Assistant Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Neurology
position in organization: Massachusetts General Hospital

Assistant Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Neurology
position in organization: Massachusetts General Hospital

Authorship 1677958
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy.

Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy.
PubMed Identifier: 39111913
author list: Eichler FS, Kuehl JS
published in: Handbook of clinical neurology
information resource reference: Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy. Handb Clin Neurol. 2024; 202:265-278.
journal title abbreviation: Handb Clin Neurol
publication date: 2024-01-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 266972
type: Authorship
author rank in publication: 15
linked author: Eichler, Florian
linked information resource: Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Authorship 1701546
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Authorship 1695569
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Authorship 1700982
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Adrenoleukodystrophy.

Authorship 1696295
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Sirens and sphingolipids: What lures hematopoietic stem cells to the nervous system?

Authorship 1695772
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Authorship 1695563
type: Authorship
author rank in publication: 12
linked author: Eichler, Florian
linked information resource: Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.

Authorship 1697433
type: Authorship
author rank in publication: 13
linked author: Eichler, Florian
linked information resource: Characterizing visual processing deficits in cerebral adrenoleukodystrophy.

Authorship 1698613
type: Authorship
author rank in publication: 14
linked author: Eichler, Florian
linked information resource: Systemic complications of Aicardi Goutières syndrome using real-world data.

Authorship 1700756
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Gene therapy for neurologic disorders.

Adrenoleukodystrophy.
PubMed Identifier: 39322375
author list: Engelen M, Kemp S, Eichler F
published in: Handbook of clinical neurology
information resource reference: Adrenoleukodystrophy. Handb Clin Neurol. 2024; 204:133-138.
journal title abbreviation: Handb Clin Neurol
publication date: 2024-01-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
PubMed Identifier: 39383458
author list: Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
published in: The New England journal of medicine
information resource reference: Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 10 10; 391(14):1287-1301.
journal title abbreviation: N Engl J Med
publication date: 2024-10-10T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Sirens and sphingolipids: What lures hematopoietic stem cells to the nervous system?
PubMed Identifier: 39303709
author list: Li Y, Eichler FS
published in: Molecular therapy : the journal of the American Society of Gene Therapy
information resource reference: Sirens and sphingolipids: What lures hematopoietic stem cells to the nervous system? Mol Ther. 2024 Oct 02; 32(10):3199-3200.
journal title abbreviation: Mol Ther
publication date: 2024-09-20T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterizing visual processing deficits in cerebral adrenoleukodystrophy.
PubMed Identifier: 39396893
author list: Corre CS, Bambery M, Bennett CR, Nagy A, Manley CE, Winter E, Peregoy C, Kelly D, Andonian H, Maciel S, Becker C, Merabet LB, Eichler FS
published in: Brain & development
information resource reference: Characterizing visual processing deficits in cerebral adrenoleukodystrophy. Brain Dev. 2024 Nov; 46(10):344-350.
journal title abbreviation: Brain Dev
publication date: 2024-10-12T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
PubMed Identifier: 39276676
author list: Metovic J, Li Y, Gong Y, Eichler F
published in: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
information resource reference: Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials. Neurotherapeutics. 2024 Jul; 21(4):e00443.
journal title abbreviation: Neurotherapeutics
publication date: 2024-09-13T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
PubMed Identifier: 39383459
author list: Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
published in: The New England journal of medicine
information resource reference: Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 10 10; 391(14):1302-1312.
journal title abbreviation: N Engl J Med
publication date: 2024-10-10T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
PubMed Identifier: 39372123
author list: Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL
published in: Neurology. Genetics
information resource reference: Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy. Neurol Genet. 2024 Oct; 10(5):e200192.
journal title abbreviation: Neurol Genet
publication date: 2024-10-03T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Systemic complications of Aicardi Goutières syndrome using real-world data.
PubMed Identifier: 39332260
author list: Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA
published in: Molecular genetics and metabolism
information resource reference: Systemic complications of Aicardi Goutières syndrome using real-world data. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108578.
journal title abbreviation: Mol Genet Metab
publication date: 2024-09-15T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene therapy for neurologic disorders.
PubMed Identifier: 39318035
author list: Eichler FS, Brown RH
published in: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
information resource reference: Gene therapy for neurologic disorders. Neurotherapeutics. 2024 Jul; 21(4):e00453.
journal title abbreviation: Neurotherapeutics
publication date: 2024-07-01T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1706771
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.
PubMed Identifier: 39524975
author list: Vasireddy V, Maguire CA, Anderson DW, Ng C, Gong Y, Eichler F, Fourcade S, Guilera C, Onieva A, Sanchez A, Leal-Julià M, Verdés S, Dijkstra IME, Kemp S, Park H, Lutz T, Clark SW, Bosch A, Pujol A, Kozarsky K
published in: Molecular therapy. Methods & clinical development
information resource reference: An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs. Mol Ther Methods Clin Dev. 2024 Dec 12; 32(4):101354.
journal title abbreviation: Mol Ther Methods Clin Dev
publication date: 2024-10-09T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1710488
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
PubMed Identifier: 39628365
author list: Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R
published in: Human gene therapy
information resource reference: Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. Hum Gene Ther. 2024 Jan; 36(1-2):45-56.
journal title abbreviation: Hum Gene Ther
publication date: 2024-12-04T00:00:00
year: 2024
type: Academic Article
type: Article
type: Document
type: Information Resource

Assistant Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Neurology
position in organization: Massachusetts General Hospital

An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials.
PubMed Identifier: 39804612
author list: Bonkowsky JL, Rajan DS, Eichler F
published in: JAMA neurology
information resource reference: An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials. JAMA Neurol. 2025 May 01; 82(5):429-430.
journal title abbreviation: JAMA Neurol
publication date: 2025-05-01T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1718532
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials.

Authorship 224066
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: Cortical demyelination in PML and MS: Similarities and differences.

Associate Professor of Neurology
is primary position: true
position in department: Neurology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Associate Professor of Neurology
position in organization: Massachusetts General Hospital

Authorship 683133
type: Authorship
author rank in publication: 4
linked author: Eichler, Florian
linked information resource: Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study.

Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study.
PubMed Identifier: 9790797
author list: Kurtz JE, Deplanque G, Duclos B, Eichler F, Giron C, Limacher JM, Herbrecht R, Maloisel F, Oberling F, Bergerat JP, Dufour P
published in: Gynecologic oncology
information resource reference: Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study. Gynecol Oncol. 1998 Sep; 70(3):414-7.
journal title abbreviation: Gynecol Oncol
publication date: 1998-09-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.
PubMed Identifier: 39919255
author list: Grant NR, Li Y, De La Rosa Abreu L, Becker C, Wishart BD, Nagy A, Eichler FS, Sadjadi R
published in: Neurology
information resource reference: Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy. Neurology. 2025 Mar 11; 104(5):e213370.
journal title abbreviation: Neurology
publication date: 2025-02-07T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis.
PubMed Identifier: 40145132
author list: Sullivan S, Stafstrom C, Grant N, David WS, Price F, Rubin L, Eichler F, Sadjadi R
published in: Muscle & nerve
information resource reference: Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis. Muscle Nerve. 2025 Jul; 72(1):114-118.
journal title abbreviation: Muscle Nerve
publication date: 2025-03-27T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1729670
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.

Authorship 1734406
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.
PubMed Identifier: 39966257
author list: Rowe OE, Rangaprakash D, Eichler FS, Schmahmann JD, Barry RL, Stephen CD
published in: Cerebellum (London, England)
information resource reference: Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation. Cerebellum. 2025 Feb 18; 24(2):50.
journal title abbreviation: Cerebellum
publication date: 2025-02-18T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1739601
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.

Authorship 1742415
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis.

Authorship 1745077
type: Authorship
author rank in publication: 23
linked author: Eichler, Florian
linked information resource: Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Authorship 1746946
type: Authorship
author rank in publication: 23
linked author: Eichler, Florian
linked information resource: Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.

Authorship 1746929
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Seizures in childhood cerebral adrenoleukodystrophy.

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
PubMed Identifier: 40257001
author list: Weiß M, Selig M, Friedrich J, Wierczeiko A, Diederich S, Sigel H, Bredow J, Eichler FS, Nagy A, Seyler D, Holthöfer L, Gerber S, Schweiger S, Linke M, Bley A
published in: Human gene therapy
information resource reference: Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis. Hum Gene Ther. 2025 Sep; 36(17-18):1248-1256.
journal title abbreviation: Hum Gene Ther
publication date: 2025-04-21T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Seizures in childhood cerebral adrenoleukodystrophy.
PubMed Identifier: 40197597
author list: Page N, Nagy AM, Eichler FS, Ream MA
published in: Developmental medicine and child neurology
information resource reference: Seizures in childhood cerebral adrenoleukodystrophy. Dev Med Child Neurol. 2025 Nov; 67(11):1494-1500.
journal title abbreviation: Dev Med Child Neurol
publication date: 2025-04-08T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
PubMed Identifier: 40346069
author list: Keefe AC, Jensen DM, Pham MM, Au NYT, Beckman E, Penon-Portmann M, Shelkowitz E, Bend R, Morrow MM, Kruszka P, Vats D, Russell BE, Chan E, Wong D, Rabani A, O'Grady L, Sahai I, Widmeyer K, Sperry ED, Hallinan BE, Tryon R, Lund TC, Eichler FS, Sun A, Bennett JT
published in: NPJ genomic medicine
information resource reference: Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. NPJ Genom Med. 2025 May 09; 10(1):38.
journal title abbreviation: NPJ Genom Med
publication date: 2025-05-09T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
PubMed Identifier: 40202052
author list: Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC, Young LR, Voss LA, Reichert SL, Gallo DJ, Cohen JS, Bonkowsky JL, Keller SR, Bennett ML, Pizzino AM, Swantkowski M, Arnold K, Fraser JL, Emerson FJ, Miettunen K, Fatemi A, Van Haren KP, Adang L, Waldman A, Emrick L, Eichler F, Vanderver A
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. Genet Med. 2025 Jul; 27(7):101425.
journal title abbreviation: Genet Med
publication date: 2025-04-05T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 254623
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.

Authorship 722884
type: Authorship
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linked information resource: Pathophysiology of X-linked adrenoleukodystrophy.

Pathophysiology of X-linked adrenoleukodystrophy.
PubMed Identifier: 24316281
author list: Berger J, Forss-Petter S, Eichler FS
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information resource reference: Pathophysiology of X-linked adrenoleukodystrophy. Biochimie. 2014 Mar; 98:135-42.
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Authorship 263132
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linked information resource: Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability.

Authorship 727024
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linked information resource: Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay.

Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay.
PubMed Identifier: 24806163
author list: Krishnamoorthy KS, Eichler F, Rapalino O, Frosch MP
published in: The New England journal of medicine
information resource reference: Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay. N Engl J Med. 2014 May 08; 370(19):1830-41.
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Authorship 371152
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linked information resource: Leukodystrophies: classification, diagnosis, and treatment.

Authorship 732131
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linked information resource: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.

Authorship 732909
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author rank in publication: 7
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linked information resource: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.

Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.
PubMed Identifier: 24515842
author list: Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS
published in: Neuropediatrics
information resource reference: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 2014 Jun; 45(3):e1.
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Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature.
PubMed Identifier: 24459069
author list: Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS
published in: Neuropediatrics
information resource reference: Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 2014 Jun; 45(3):169-74.
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Authorship 1793413
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linked information resource: Hypogonadism in adult males with adrenoleukodystrophy.

Authorship 1794427
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linked information resource: Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.

Authorship 1825361
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linked information resource: Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.

Authorship 1826176
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linked information resource: Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.

Authorship 1831907
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linked author: Eichler, Florian
linked information resource: Risk of Seizures and Epilepsy in the Leukodystrophies.

Authorship 1835971
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linked author: Eichler, Florian
linked information resource: Diagnostic yield of genome sequencing in children with progressive movement disorders.

Authorship 1834862
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linked author: Eichler, Florian
linked information resource: Living with adrenoleukodystrophy: adult patient and caregiver perspectives.

Authorship 1836353
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linked information resource: The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.

Authorship 1852353
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author rank in publication: 7
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linked information resource: Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
PubMed Identifier: 40817303
author list: Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR
published in: Nature medicine
information resource reference: Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep; 31(9):2927-2935.
journal title abbreviation: Nat Med
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Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
PubMed Identifier: 41349291
author list: Bachetti T, Vaia Y, Grossi A, Rosamilia F, Bertini E, Nicita F, Bellitto D, Eichler F, Bernard G, Nagy A, Zerem A, Heidari M, Tavasoli AR, Moroni I, Ceccherini I, Tonduti D
published in: Molecular genetics and metabolism
information resource reference: Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes. Mol Genet Metab. 2026 Jan; 147(1):109689.
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The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.
PubMed Identifier: 41663336
author list: Lund TC, Miettunen K, Jaspers YRJ, Bergner C, Bonkowsky JL, Bruschi F, Cohen JS, Dijkstra IME, Eichler FS, Mallack EJ, Salomons GS, Thompson R, Tonduti D, van Haren KP, Wamelink MMC, Zerem A, Engelen M, Kemp S
published in: Journal of inherited metabolic disease
information resource reference: The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. J Inherit Metab Dis. 2026 Mar; 49(2):e70157.
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Diagnostic yield of genome sequencing in children with progressive movement disorders.
PubMed Identifier: 41640354
author list: Schierbaum L, Gonzalez Saez-Diez E, Tam A, Rong J, Zubair U, Bernardi K, Yang K, Quiroz V, Zaman Z, Saffari A, Carty S, Agianda HAP, Alexandrescu S, Eichler F, Sveden A, Chopra M, Calame DG, Danzi MC, Zuchner S, Ebrahimi-Fakhari D
published in: Brain : a journal of neurology
information resource reference: Diagnostic yield of genome sequencing in children with progressive movement disorders. Brain. 2026 Feb 05.
journal title abbreviation: Brain
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Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.
PubMed Identifier: 40696909
author list: Wright MA, Demmitt-Rice C, Van Haren KP, Lund TC, Eichler F, Bonkowsky JL
published in: Journal of child neurology
information resource reference: Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions. J Child Neurol. 2026 Feb; 41(2):221-234.
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Hypogonadism in adult males with adrenoleukodystrophy.
PubMed Identifier: 41106498
author list: Ramirez Alcantara J, Grant NR, Stanley T, Halper A, Eichler FS, Tritos NA
published in: Annales d'endocrinologie
information resource reference: Hypogonadism in adult males with adrenoleukodystrophy. Ann Endocrinol (Paris). 2025 Sep; 86(5):102464.
journal title abbreviation: Ann Endocrinol (Paris)
publication date: 2025-10-15T00:00:00
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Risk of Seizures and Epilepsy in the Leukodystrophies.
PubMed Identifier: 41166783
author list: Hackett AN, Yan H, Liu K, Corre C, Gao K, Grzyb C, Goodman J, Kelly D, Ingemansson CR, Ghabash G, DiBenardo K, Raymond GV, Benko W, Thompson-Stone R, Fatemi A, Eichler FS, Keller S, Bonkowsky JL, Escolar M, Mallack EJ
published in: Pediatric neurology
information resource reference: Risk of Seizures and Epilepsy in the Leukodystrophies. Pediatr Neurol. 2026 Jan; 174:20-28.
journal title abbreviation: Pediatr Neurol
publication date: 2025-10-07T00:00:00
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type: Academic Article
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Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.
PubMed Identifier: 41650360
author list: Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F
published in: Neurology
information resource reference: Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. Neurology. 2026 Mar 10; 106(5):e214657.
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Living with adrenoleukodystrophy: adult patient and caregiver perspectives.
PubMed Identifier: 41508113
author list: Fine AS, Sullivan-Fortin KO, Miettunen K, Emerson F, Sadjadi R, Fatemi A, Eichler F
published in: Orphanet journal of rare diseases
information resource reference: Living with adrenoleukodystrophy: adult patient and caregiver perspectives. Orphanet J Rare Dis. 2026 Jan 08; 21(1):8.
journal title abbreviation: Orphanet J Rare Dis
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Lecturer on Pediatrics, Part-time
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HR job title: Lecturer on Pediatrics, Part-time
position in organization: Boston Children's Hospital

Instructor in Pediatrics
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position in department: Pediatrics
position in division: Genetics
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HR job title: Instructor in Pediatrics
position in organization: Boston Children's Hospital

Leland Fikes Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Hematology/Oncology
sort order: 1
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HR job title: Leland Fikes Professor of Pediatrics
position in organization: Boston Children's Hospital

Authorship 765552
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Altered sphingoid base profiles in type 1 compared to type 2 diabetes.

Altered sphingoid base profiles in type 1 compared to type 2 diabetes.
PubMed Identifier: 25305670
author list: Wei N, Pan J, Pop-Busui R, Othman A, Alecu I, Hornemann T, Eichler FS
published in: Lipids in health and disease
information resource reference: Altered sphingoid base profiles in type 1 compared to type 2 diabetes. Lipids Health Dis. 2014 Oct 11; 13:161.
journal title abbreviation: Lipids Health Dis
publication date: 2014-10-11T00:00:00
year: 2014
type: Academic Article
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Authorship 91936
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.

Authorship 600587
type: Authorship
linked author: Eichler, Florian
linked information resource: Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects.

Authorship 622884
type: Authorship
linked author: Eichler, Florian
linked information resource: Leukodystrophies

Biffi, Alessandra
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last name: Biffi
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preferred title: Lecturer on Pediatrics, Part-time

Authorship 616794
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linked author: Eichler, Florian
linked information resource: Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations

Authorship 609970
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linked author: Eichler, Florian
linked information resource: Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities

Authorship 229108
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author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Authorship 118334
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author rank in publication: 5
linked author: Eichler, Florian
linked information resource: Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.

Authorship 222369
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author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.

Authorship 243480
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author rank in publication: 2
linked author: Eichler, Florian
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/1119779

Authorship 324952
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author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Cerebral blood flow velocities in an infant with moyamoya disease.

Authorship 398955
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author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.

Authorship 409152
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.

Authorship 788218
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Case definition and classification of leukodystrophies and leukoencephalopathies.

Authorship 793726
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author rank in publication: 21
linked author: Eichler, Florian
linked information resource: Disease specific therapies in leukodystrophies and leukoencephalopathies.

Authorship 791059
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author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Natural history and biomarkers in hereditary sensory neuropathy type 1.

Authorship 792315
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author rank in publication: 2
linked author: Eichler, Florian
linked information resource: The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Authorship 795642
type: Authorship
author rank in publication: 9
linked author: Eichler, Florian
linked information resource: Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
PubMed Identifier: 25999754
author list: Wiesinger C, Eichler FS, Berger J
published in: The application of clinical genetics
information resource reference: The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 2015; 8:109-21.
journal title abbreviation: Appl Clin Genet
publication date: 2015-05-02T00:00:00
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Natural history and biomarkers in hereditary sensory neuropathy type 1.
PubMed Identifier: 25042817
author list: Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH, Eichler FS
published in: Muscle & nerve
information resource reference: Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve. 2015 Apr; 51(4):489-95.
journal title abbreviation: Muscle Nerve
publication date: 2015-02-11T00:00:00
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type: Academic Article
type: Article
type: Document
type: Information Resource

Disease specific therapies in leukodystrophies and leukoencephalopathies.
PubMed Identifier: 25684057
author list: Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A
published in: Molecular genetics and metabolism
information resource reference: Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):527-36.
journal title abbreviation: Mol Genet Metab
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Case definition and classification of leukodystrophies and leukoencephalopathies.
PubMed Identifier: 25649058
author list: Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS
published in: Molecular genetics and metabolism
information resource reference: Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500.
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Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.
PubMed Identifier: 25592337
author list: Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS
published in: Molecular therapy : the journal of the American Society of Gene Therapy
information resource reference: Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Mol Ther. 2015 May; 23(5):824-834.
journal title abbreviation: Mol Ther
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Authorship 252783
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author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Does professional counseling improve infant home monitoring? Evaluation of an intensive instruction program for families using home monitoring on their babies.

Authorship 479886
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.

Authorship 283618
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author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.

The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis.
PubMed Identifier: 25947882
author list: Clair C, Cohen MJ, Eichler F, Selby KJ, Rigotti NA
published in: Journal of general internal medicine
information resource reference: The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis. J Gen Intern Med. 2015 Aug; 30(8):1193-203.
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Authorship 840161
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author rank in publication: 5
linked author: Eichler, Florian
linked information resource: Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.

Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
PubMed Identifier: 26446223
author list: Jun BK, Chandra A, Kuljis D, Schmidt BP, Eichler FS
published in: The Journal of neuroscience : the official journal of the Society for Neuroscience
information resource reference: Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia. J Neurosci. 2015 Oct 07; 35(40):13713-9.
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Authorship 842374
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: Brain endothelial dysfunction in cerebral adrenoleukodystrophy.

Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
PubMed Identifier: 26377633
author list: Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS
published in: Brain : a journal of neurology
information resource reference: Brain endothelial dysfunction in cerebral adrenoleukodystrophy. Brain. 2015 Nov; 138(Pt 11):3206-20.
journal title abbreviation: Brain
publication date: 2015-09-15T00:00:00
year: 2015
type: Academic Article
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Authorship 590284
type: Authorship
linked author: Eichler, Florian
linked information resource: A 5-month-old boy with developmental delay and irritability

Authorship 60991
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author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects.

Authorship 60775
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.

Authorship 70815
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author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.

Authorship 88025
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author rank in publication: 2
linked author: Eichler, Florian
linked information resource: Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline.

Authorship 418175
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author rank in publication: 5
linked author: Eichler, Florian
linked information resource: Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.
PubMed Identifier: 27132782
author list: Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE
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information resource reference: Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016 06; 118(2):65-9.
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Authorship 884348
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linked information resource: CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
PubMed Identifier: 27190017
author list: Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R
published in: Brain : a journal of neurology
information resource reference: CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 06; 139(Pt 6):1666-72.
journal title abbreviation: Brain
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Nagy, Amanda
eCommons Login: AMN19
first name: Amanda
last name: Nagy
full name: Amanda Marie Nagy, M.D.
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person in primary position: Instructor in Neurology
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Authorship 886836
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linked author: Eichler, Florian
linked information resource: Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.
PubMed Identifier: 27298454
author list: Mukerji SS, Eichler FS
published in: Neurology
information resource reference: Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy. Neurology. 2016 06 14; 86(24):e248.
journal title abbreviation: Neurology
publication date: 2016-06-14T00:00:00
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type: Academic Article
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Authorship 585717
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linked author: Eichler, Florian
linked information resource: Imaging cerebral gene transcripts in live animals

Assistant Professor
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Associate Professor
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Full Professor
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Instructor
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Lecturer
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Inherited or acquired metabolic disorders.
PubMed Identifier: 27432685
author list: Eichler F, Ratai E, Carroll JJ, Masdeu JC
published in: Handbook of clinical neurology
information resource reference: Inherited or acquired metabolic disorders. Handb Clin Neurol. 2016; 135:603-636.
journal title abbreviation: Handb Clin Neurol
publication date: 2016-01-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 893068
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Inherited or acquired metabolic disorders.

Authorship 74779
type: Authorship
author rank in publication: 2
linked author: Eichler, Florian
linked information resource: [Evaluation of the cardiorespiratory monitor SpiroGuard C for infants. Improved registration of respiratory events by new sensors and intelligent alarm management system].

Authorship 579614
type: Authorship
linked author: Eichler, Florian
linked information resource: A 57-year-old man with progressive neurologic decline

Imaging the Pathophysiology of AMN in Mice and Humans
end date: 2011-08-31
principal investigator name: EICHLER, FLORIAN S
start date: 2006-06-01
type: Grant
sponsor award id: K08NS052550

MASS SPECTROMETRY RESOURCE FOR BIOLOGY AND MEDICINE
end date: 2012-08-09
principal investigator name: COSTELLO, CATHERINE E.
start date: 1996-07-01
type: Grant
sponsor award id: P41RR010888

Safety, Tolerability and Biological Activity of L-serine in HSAN1.
end date: 2017-05-31
principal investigator name: EICHLER, FLORIAN S
start date: 2013-09-01
type: Grant
sponsor award id: R01NS082331

The Role of Desoxysphingoid Bases in HSAN1
end date: 2016-02-28
principal investigator name: EICHLER, FLORIAN S
start date: 2011-03-15
type: Grant
sponsor award id: R01NS072446

Phase 2 Study of L-Serine in HSN Type 1
end date: 2018-08-31
principal investigator name: EICHLER, FLORIAN S
start date: 2012-09-14
type: Grant
sponsor award id: R01FD004127

Principal Investigator
type: Researcher Role
researcher role of: Eichler, Florian
contributes to: The Role of Desoxysphingoid Bases in HSAN1

Principal Investigator
type: Researcher Role
researcher role of: Eichler, Florian
contributes to: Phase 2 Study of L-Serine in HSN Type 1

Principal Investigator
type: Researcher Role
researcher role of: Eichler, Florian
contributes to: Safety, Tolerability and Biological Activity of L-serine in HSAN1.

Principal Investigator
type: Researcher Role
researcher role of: Eichler, Florian
contributes to: Imaging the Pathophysiology of AMN in Mice and Humans

Co-Principal Investigator
type: Researcher Role
researcher role of: Eichler, Florian
contributes to: MASS SPECTROMETRY RESOURCE FOR BIOLOGY AND MEDICINE

Authorship 917946
type: Authorship
author rank in publication: 7
linked author: Eichler, Florian
linked information resource: Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
PubMed Identifier: 26490222
author list: Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ
published in: Molecular genetics and metabolism
information resource reference: Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec; 116(4):252-9.
journal title abbreviation: Mol Genet Metab
publication date: 2015-10-17T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 920935
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Metachromatic Leukodystrophy: An Assessment of Disease Burden.

Metachromatic Leukodystrophy: An Assessment of Disease Burden.
PubMed Identifier: 27389394
author list: Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A
published in: Journal of child neurology
information resource reference: Metachromatic Leukodystrophy: An Assessment of Disease Burden. J Child Neurol. 2016 11; 31(13):1457-1463.
journal title abbreviation: J Child Neurol
publication date: 2016-07-07T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Seyedsadjadi, Reza
eCommons Login: RS413
first name: Reza
last name: Seyedsadjadi
full name: Reza Seyedsadjadi, M.D.
has faculty rank: Assistant Professor
Person ID: 154756
person in primary position: Assistant Professor of Neurology
type: Agent
type: Person
preferred title: Assistant Professor of Neurology

Authorship 553098
type: Authorship
author rank in publication: 3
linked author: Eichler, Florian
linked information resource: Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.

Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.
PubMed Identifier: 11914405
author list: Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV
published in: Neurology
information resource reference: Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology. 2002 Mar 26; 58(6):901-7.
journal title abbreviation: Neurology
publication date: 2002-03-26T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.
PubMed Identifier: 12006287
author list: Eichler FS, Wang P, Wityk RJ, Beauchamp NJ, Barker PB
published in: AJNR. American journal of neuroradiology
information resource reference: Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR Am J Neuroradiol. 2002 May; 23(5):833-7.
journal title abbreviation: AJNR Am J Neuroradiol
publication date: 2002-05-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience.
PubMed Identifier: 12355012
author list: Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PC, Moser HW, Raymond GV, Melhem ER
published in: Radiology
information resource reference: Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology. 2002 Oct; 225(1):245-52.
journal title abbreviation: Radiology
publication date: 2002-10-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy.
PubMed Identifier: 11222805
author list: Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW
published in: Neurology
information resource reference: Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 2001 Feb 27; 56(4):544-7.
journal title abbreviation: Neurology
publication date: 2001-02-27T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.
PubMed Identifier: 22430161
author list: Horvath GA, Eichler F, Poskitt K, Stockler-Ipsiroglu S
published in: Neuropediatrics
information resource reference: Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy. Neuropediatrics. 2012 Feb; 43(1):48-52.
journal title abbreviation: Neuropediatrics
publication date: 2012-03-19T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities
author list: Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler FS, Brown RH, Harmon J, Dunn TM
published in: PNAS
information resource reference: Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities. PNAS. 2009; 106(20):8186-91.
publication date: 2009-05-19T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

[Evaluation of the cardiorespiratory monitor SpiroGuard C for infants. Improved registration of respiratory events by new sensors and intelligent alarm management system].
PubMed Identifier: 10763536
author list: Urschitz MS, Eichler F, Popow C, Ipsiroglu OS
published in: Wiener klinische Wochenschrift
information resource reference: [Evaluation of the cardiorespiratory monitor SpiroGuard C for infants. Improved registration of respiratory events by new sensors and intelligent alarm management system]. Wien Klin Wochenschr. 2000 Mar 10; 112(5):226-33.
journal title abbreviation: Wien Klin Wochenschr
publication date: 2000-03-10T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects.
PubMed Identifier: 10572729
author list: Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S
published in: Clinics in perinatology
information resource reference: Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects. Clin Perinatol. 1999 Dec; 26(4):905-46.
journal title abbreviation: Clin Perinatol
publication date: 1999-12-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.
PubMed Identifier: 16970890
author list: Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K
published in: Journal of child neurology
information resource reference: Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol. 2006 Sep; 21(9):801-5.
journal title abbreviation: J Child Neurol
publication date: 2006-09-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
PubMed Identifier: 20038527
author list: Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS
published in: Journal of child neurology
information resource reference: Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol. 2010 May; 25(5):572-80.
journal title abbreviation: J Child Neurol
publication date: 2009-12-28T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis.
PubMed Identifier: 17950416
author list: Eichler F, Krishnamoorthy K, Grant PE
published in: Pediatric neurology
information resource reference: Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatr Neurol. 2007 Nov; 37(5):317-23.
journal title abbreviation: Pediatr Neurol
publication date: 2007-11-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
PubMed Identifier: 22045570
author list: Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS
published in: The Journal of clinical investigation
information resource reference: Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest. 2011 Dec; 121(12):4735-45.
journal title abbreviation: J Clin Invest
publication date: 2011-12-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Leukodystrophies
author list: Gerald Raymond, Florian Eichler, Sakkubai Naidu
published in: Leukodystrophies
information resource reference: Leukodystrophies. 2011.
publication date: 2011-06-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1009119
type: Authorship
author rank in publication: 8
linked author: Eichler, Florian
linked information resource: Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
PubMed Identifier: 28863857
author list: Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A
published in: Molecular genetics and metabolism
information resource reference: Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 09; 122(1-2):18-32.
journal title abbreviation: Mol Genet Metab
publication date: 2017-08-20T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
PubMed Identifier: 16140720
author list: Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE
published in: Pediatrics
information resource reference: Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005 Sep; 116(3):757-66.
journal title abbreviation: Pediatrics
publication date: 2005-09-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Cerebral blood flow velocities in an infant with moyamoya disease.
PubMed Identifier: 10580888
author list: Ipsiroglu OS, Eichler F, Stöckler-Ipsiroglu S, Trattnig S
published in: Pediatric neurology
information resource reference: Cerebral blood flow velocities in an infant with moyamoya disease. Pediatr Neurol. 1999 Oct; 21(4):739-41.
journal title abbreviation: Pediatr Neurol
publication date: 1999-10-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

149 13th Street
type: Address
address line 1: Massachusetts General Hospital
address line 2: Rm 6212
address line 3: 149 13th Street
city: Charlestown
postal code: 02129
state or province: MA

Authorship 1012707
type: Authorship
author rank in publication: 6
linked author: Eichler, Florian
linked information resource: X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
PubMed Identifier: 28919002
author list: Curiel J, Steinberg SJ, Bright S, Snowden A, Moser AB, Eichler F, Dubbs HA, Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A
published in: Molecular genetics and metabolism
information resource reference: X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans. Mol Genet Metab. 2017 11; 122(3):130-133.
journal title abbreviation: Mol Genet Metab
publication date: 2017-09-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1017254
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
PubMed Identifier: 28976817
author list: Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
published in: The New England journal of medicine
information resource reference: Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2017 10 26; 377(17):1630-1638.
journal title abbreviation: N Engl J Med
publication date: 2017-10-04T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Immune response in leukodystrophies.
PubMed Identifier: 17903666
author list: Eichler F, Van Haren K
published in: Pediatric neurology
information resource reference: Immune response in leukodystrophies. Pediatr Neurol. 2007 Oct; 37(4):235-44.
journal title abbreviation: Pediatr Neurol
publication date: 2007-10-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1022161
type: Authorship
author rank in publication: 10
linked author: Eichler, Florian
linked information resource: Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
PubMed Identifier: 29059709
author list: Gong Y, Sasidharan N, Laheji F, Frosch M, Musolino P, Tanzi R, Kim DY, Biffi A, El Khoury J, Eichler F
published in: Annals of neurology
information resource reference: Microglial dysfunction as a key pathological change in adrenomyeloneuropathy. Ann Neurol. 2017 Nov; 82(5):813-827.
journal title abbreviation: Ann Neurol
publication date: 2017-11-11T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Natural history of infantile G(M2) gangliosidosis.
PubMed Identifier: 22025593
author list: Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS
published in: Pediatrics
information resource reference: Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011 Nov; 128(5):e1233-41.
journal title abbreviation: Pediatrics
publication date: 2011-10-24T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1026941
type: Authorship
author rank in publication: 13
linked author: Eichler, Florian
linked information resource: ABCD1 dysfunction alters white matter microvascular perfusion.

ABCD1 dysfunction alters white matter microvascular perfusion.
PubMed Identifier: 29136088
author list: Lauer A, Da X, Hansen MB, Boulouis G, Ou Y, Cai X, Liberato Celso Pedrotti A, Kalpathy-Cramer J, Caruso P, Hayden DL, Rost N, Mouridsen K, Eichler FS, Rosen B, Musolino PL
published in: Brain : a journal of neurology
information resource reference: ABCD1 dysfunction alters white matter microvascular perfusion. Brain. 2017 Dec 01; 140(12):3139-3152.
journal title abbreviation: Brain
publication date: 2017-12-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.
PubMed Identifier: 19797797
author list: Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I
published in: AJNR. American journal of neuroradiology
information resource reference: Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol. 2009 Nov; 30(10):1893-7.
journal title abbreviation: AJNR Am J Neuroradiol
publication date: 2009-10-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1031408
type: Authorship
author rank in publication: 1
linked author: Eichler, Florian
linked information resource: Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.

Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
PubMed Identifier: 29236641
author list: Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O
published in: The New England journal of medicine
information resource reference: Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med. 2017 Dec 14; 377(24):2376-2385.
journal title abbreviation: N Engl J Med
publication date: 2017-12-14T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
PubMed Identifier: 19923297
author list: Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH
published in: The Journal of neuroscience : the official journal of the Society for Neuroscience
information resource reference: Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. J Neurosci. 2009 Nov 18; 29(46):14646-51.
journal title abbreviation: J Neurosci
publication date: 2009-11-18T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
PubMed Identifier: 19416851
author list: Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH, Harmon JM, Dunn TM
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. Proc Natl Acad Sci U S A. 2009 May 19; 106(20):8186-91.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2009-05-05T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability.
PubMed Identifier: 20107221
author list: Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M
published in: The New England journal of medicine
information resource reference: Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability. N Engl J Med. 2010 Jan 28; 362(4):346-56.
journal title abbreviation: N Engl J Med
publication date: 2010-01-28T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Childhood leukodystrophies: a clinical perspective.
PubMed Identifier: 21955203
author list: Kohlschütter A, Eichler F
published in: Expert review of neurotherapeutics
information resource reference: Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011 Oct; 11(10):1485-96.
journal title abbreviation: Expert Rev Neurother
publication date: 2011-10-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Does professional counseling improve infant home monitoring? Evaluation of an intensive instruction program for families using home monitoring on their babies.
PubMed Identifier: 12416288
author list: Kurz H, Neunteufl R, Eichler F, Urschitz M, Tiefenthaler M
published in: Wiener klinische Wochenschrift
information resource reference: Does professional counseling improve infant home monitoring? Evaluation of an intensive instruction program for families using home monitoring on their babies. Wien Klin Wochenschr. 2002 Sep 30; 114(17-18):801-6.
journal title abbreviation: Wien Klin Wochenschr
publication date: 2002-09-30T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource