Eichler F, Ipsiroglu O, Arif T, Popow C, Heinzl H, Urschitz M, Pollak A
Position dependent changes of cerebral blood flow velocities in premature infants. Eur J Pediatr. 2001 Oct; 160(10):633-9.
Position dependent changes of cerebral blood flow velocities in premature infants.
Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2018 02 01; 378(5):490-491.
Gene Therapy for Cerebral Adrenoleukodystrophy.
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018 07; 41(4):647-656.
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
Cerebral amyloid angiopathy and lobar intracerebral hemorrhage. Arch Neurol. 2006 Jan; 63(1):148-51.
Cerebral amyloid angiopathy and lobar intracerebral hemorrhage.
Moll NM, Rietsch AM, Ransohoff AJ, Cossoy MB, Huang D, Eichler FS, Trapp BD, Ransohoff RM
Cortical demyelination in PML and MS: Similarities and differences. Neurology. 2008 Jan 29; 70(5):336-43.
Cortical demyelination in PML and MS: Similarities and differences.
Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov; 15(6):319-28.
Leukodystrophies: classification, diagnosis, and treatment.
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
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010 Apr 09; 285(15):11178-87.
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
Costello DJ, Eichler FS, Grant PE, Auluck PK
A 57-year-old man with progressive neurologic decline. NEJM. 2009; 360(2):171-81.
A 57-year-old man with progressive neurologic decline
Schmahmann JD, Smith EE, Eichler FS, Filley CM
Annals of the New York Academy of Sciences
Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates. Ann N Y Acad Sci. 2008 Oct; 1142:266-309.
Cerebral white matter: neuroanatomy, clinical neurology, and neurobehavioral correlates.
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.
Case records of the Massachusetts General Hospital. Case 1-2009. A 57-year-old man with progressive cognitive decline.
Musolino PL, Rapalino O, Caruso P, Caviness VS, Eichler FS
Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy. Brain. 2012 Sep; 135(Pt 9):2676-83.
Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.
Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep. 2012; 3:79-82.
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB, Frosch MP, Ransohoff RM
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Ann Neurol. 2008 Jun; 63(6):729-42.
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT
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.
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
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
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ipsiroglu OS, Eichler F, Stoeckler-Ipsiroglu S
Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects. . Clinics of Perinatology. 1999; 26(4):905-46.
Cerebral Doppler sonography of the neonate. A resume after 20 years and future aspects.
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
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol. 2012 Apr; 71(4):520-30.
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M.
A 5-month-old boy with developmental delay and irritability. N Engl J Med. 2010; 362(4):346-56.
A 5-month-old boy with developmental delay and irritability
Liu CH, Kim YR, Ren JQ, Eichler F, Rosen BR, Liu PK
Imaging cerebral gene transcripts in live animals. Journal of Neuroscience. 2007; 27(3):713-22.
Imaging cerebral gene transcripts in live animals
Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F
The Journal of clinical endocrinology and metabolism
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. J Clin Endocrinol Metab. 2019 01 01; 104(1):118-126.
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
Charnas L, Eichler F, Kohlschuetter A, Tolar J, Orchard PJ
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.
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.
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
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy. Hum Gene Ther. 2019 05; 30(5):544-555.
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy.
The Journal of neuroscience : the official journal of the Society for Neuroscience
Imaging cerebral gene transcripts in live animals. J Neurosci. 2007 Jan 17; 27(3):713-22.
Imaging cerebral gene transcripts in live animals.
Eichler F, Mahmood A, Loes D, Bezman L, Lin D, Moser HW, Raymond GV
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy. Arch Neurol. 2007 May; 64(5):659-64.
Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy.
Ratai E, Kok T, Wiggins C, Wiggins G, Grant E, Gagoski B, O'Neill G, Adalsteinsson E, Eichler F
Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy. Arch Neurol. 2008 Nov; 65(11):1488-94.
Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy.
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Bley A, Kohlschuetter A, Kraegeloh-Mann I
Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations. AJNR. 2009; 30(10):1893-7.
Metachromatic Leukodystrophy: A Scoring System for Brain MR Observations
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
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 2019 01 22; 92(4):e359-e370.
Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.
Liberato AP, Mallack EJ, Aziz-Bose R, Hayden D, Lauer A, Caruso PA, Musolino PL, Eichler FS
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. Neurology. 2019 04 09; 92(15):e1698-e1708.
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Hereditary Sensory and Autonomic Neuropathies
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
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. N Engl J Med. 2019 10 10; 381(15):1422-1433.
Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy.
[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.
[Survival results after 10 years of 39 patients with inflammatory breast cancer treated by two different neoadjuvant chemotherapy protocols].
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
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. J Clin Lipidol. 2018 Sep - Oct; 12(5):1169-1178.
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Duong R, Corre C, David W, Eichler F
Clinical myopathy in patients with nephropathic cystinosis. Muscle Nerve. 2020 01; 61(1):74-80.
Clinical myopathy in patients with nephropathic cystinosis.
The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy. Curr Treat Options Neurol. 2019 Nov 25; 21(12):61.
The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.
Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)
Stephen CD, Balkwill D, James P, Haxton E, Sassower K, Schmahmann JD, Eichler F, Lewis R
Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis. Neurology. 2020 02 18; 94(7):e705-e717.
Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.
Cherest H, Eichler F, Robichon-Szulmajster H
Genetic and regulatory aspects of methionine biosynthesis in Saccharomyces cerevisiae. J Bacteriol. 1969 Jan; 97(1):328-36.
Genetic and regulatory aspects of methionine biosynthesis in Saccharomyces cerevisiae.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA
The Changing Face of Adrenoleukodystrophy. Endocr Rev. 2020 08 01; 41(4).
The Changing Face of Adrenoleukodystrophy.
Mallack EJ, van de Stadt S, Caruso PA, Musolino PL, Sadjadi R, Engelen M, Eichler FS
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy. Neurology. 2020 06 16; 94(24):e2499-e2507.
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.
Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Corre C, Mello N, David WS, Eichler F
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis. Muscle Nerve. 2020 12; 62(6):681-687.
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency. Neurol Genet. 2020 Aug; 6(4):e486.
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.
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
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies. J Child Neurol. 2021 01; 36(1):65-78.
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
Chang L, Shao DD, Eichler FS, Srivastava S
Unusual Behaviors in a 7-year-old Boy. Pediatr Rev. 2021 01; 42(Suppl 1):S122-S125.
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
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.
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Corre CS, Grant N, Sadjadi R, Hayden D, Becker C, Gomery P, Eichler FS
Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy. Orphanet J Rare Dis. 2021 01 06; 16(1):14.
Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.
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
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy. J Clin Invest. 2021 04 15; 131(8).
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
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
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy. Nat Commun. 2021 03 22; 12(1):1816.
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
Bley A, Denecke J, Kohlschütter A, Schön G, Hischke S, Guder P, Bierhals T, Lau H, Hempel M, Eichler FS
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.
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
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
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.
The AAV9 Variant Capsid AAV-F Mediates Widespread Transgene Expression in Nonhuman Primate Spinal Cord After Intrathecal Administration.
Rowe OE, Rangaprakash D, Weerasekera A, Godbole N, Haxton E, James PF, Stephen CD, Barry RL, Eichler FS, Ratai EM
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis. Mol Genet Metab. 2021 08; 133(4):386-396.
Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.
Godbole NP, Sadjadi R, DeBono MA, Grant NR, Kelly DC, James PF, Stephen CD, Balkwill MD, Lewis RF, Eichler FS
Gait Difficulties and Postural Instability in Adrenoleukodystrophy. Front Neurol. 2021; 12:684102.
Gait Difficulties and Postural Instability in Adrenoleukodystrophy.
Endocrine dysfunction in adrenoleukodystrophy. Handb Clin Neurol. 2021; 182:257-267.
Endocrine dysfunction in adrenoleukodystrophy.
Cheng M, Dietz L, Gong Y, Eichler F, Nammour J, Ng C, Grimm D, Maguire CA
Neutralizing Antibody Evasion and Transduction with Purified Extracellular Vesicle-Enveloped Adeno-Associated Virus Vectors. Hum Gene Ther. 2021 12; 32(23-24):1457-1470.
Neutralizing Antibody Evasion and Transduction with Purified Extracellular Vesicle-Enveloped Adeno-Associated Virus Vectors.
Mallack EJ, Askin G, van de Stadt S, Caruso PA, Musolino PL, Engelen M, Niogi SN, Eichler FS
AJNR. American journal of neuroradiology
A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy. AJNR Am J Neuroradiol. 2021 10; 42(10):1904-1911.
A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.
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
AAV gene therapy for Tay-Sachs disease. Nat Med. 2022 02; 28(2):251-259.
Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS
Restless Legs Syndrome in X-linked adrenoleukodystrophy. Sleep Med. 2022 03; 91:31-34.
Restless Legs Syndrome in X-linked adrenoleukodystrophy.
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
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development. Front Neurol. 2021; 12:788168.
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Misko AL, Wood LB, DeBono M, Oberman R, Raas-Rothschild A, Grishchuk Y, Eichler F
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV. Neurol Genet. 2022 Apr; 8(2):e662.
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Gong Y, Laheji F, Berenson A, Qian A, Park SO, Kok R, Selig M, Hahn R, Sadjadi R, Kemp S, Eichler F
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia. Cells. 2022 06 04; 11(11).
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
Sveinsson B, Rowe OE, Stockmann JP, Park DJ, Lally PJ, Rosen MS, Barry RL, Eichler F, Rosen BR, Sadjadi R
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.
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.
Sullivan S, Grant N, Hammond C, David WS, Eichler F, Sadjadi R
Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile. Muscle Nerve. 2022 08; 66(2):223-226.
Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
Mallack EJ, Van Haren KP, Torrey A, van de Stadt S, Engelen M, Raymond GV, Fatemi A, Eichler FS
Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment. Neurology. 2022 Aug 01; 99(5):e512-e520.
Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment.
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
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
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
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach. Neurology. 2022 11 22; 99(21):940-951.
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
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
Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response. Commun Biol. 2022 09 09; 5(1):944.
Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.
Eichler F, Sevin C, Barth M, Pang F, Howie K, Walz M, Wilds A, Calcagni C, Chanson C, Campbell L
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy. Orphanet J Rare Dis. 2022 10 04; 17(1):370.
Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy.
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
CSF and Blood Levels of GFAP in Alexander Disease eNeuro. 2015 09; 2(5).
CSF and Blood Levels of GFAP in Alexander Disease
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
Annals of oncology : official journal of the European Society for Medical Oncology
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.
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.
Xia C, Suriyanarayanan S, Gong Y, Fridman V, Selig M, Li J, Rutkove S, Hornemann T, Eichler F
Journal of diabetes and its complications
Long-term effects of l-serine supplementation upon a mouse model of diabetic neuropathy. J Diabetes Complications. 2023 02; 37(2):108383.
Long-term effects of l-serine supplementation upon a mouse model of diabetic neuropathy.
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
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.
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.
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
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 04 19; 146(4):1420-1435.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
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
Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy. Nat Commun. 2023 04 05; 14(1):1900.
Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.
Ramirez Alcantara J, Grant NR, Sethuram S, Nagy A, Becker C, Sahai I, Stanley T, Halper A, Eichler FS
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy. J Clin Endocrinol Metab. 2023 10 18; 108(11):e1306-e1315.
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
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
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy. EBioMedicine. 2023 Oct; 96:104781.
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Godbole NP, Haxton E, Rowe OE, Locascio JJ, Schmahmann JD, Eichler FS, Ratai EM, Stephen CD
Annals of clinical and translational neurology
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review. Ann Clin Transl Neurol. 2024 01; 11(1):207-224.
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Gong Y, Laheji F, Berenson A, Li Y, Moser A, Qian A, Frosch M, Sadjadi R, Hahn R, Maguire CA, Eichler F
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans. Ann Neurol. 2024 Mar; 95(3):442-458.
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
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
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects. Orphanet J Rare Dis. 2024 Feb 20; 19(1):79.
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
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
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.
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
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
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management. Eur J Paediatr Neurol. 2024 Mar; 49:141-154.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Kiefer M, Simione M, Eichler FS, Townsend EL
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.
Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function.
Molecular therapy : the journal of the American Society of Gene Therapy
Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin? Mol Ther. 2024 Jun 05; 32(6):1602-1603.
Targeting astrocytes with in vivo gene addition: Can it rescue loss of brain myelin?
Mohassel P, Abdullah M, Eichler FS, Dunn TM
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders. J Neuromuscul Dis. 2024; 11(4):735-747.
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
Posern C, Dreyer B, Maier SL, Eichler F, Gelb MH, Santer R, Bley A, Murko S
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.
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.
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
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States. Cytotherapy. 2024 Jul; 26(7):739-748.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Kissell J, Rochmann C, Minini P, Eichler F, Stephen CD, Lau H, Toro C, Johnston JM, Krupnick R, Hamed A, Cox GF
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses. Mol Genet Metab. 2024 Jul; 142(3):108512.
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
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
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy. Mol Genet Metab. 2024 Aug; 142(4):108521.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Bonkowsky JL, Healey B, Sacks NC, McLin R, Cyr PL, Sawyer EK, Stephen CD, Eichler F
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study. Orphanet J Rare Dis. 2024 Jul 17; 19(1):270.
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.
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
Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases. Nat Biotechnol. 2025 Jun; 43(6):923-935.
Click editing enables programmable genome writing using DNA polymerases and HUH endonucleases.
Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy. Handb Clin Neurol. 2024; 202:265-278.
Hematopoietic stem cell therapy and ex vivo gene therapy for X-linked adrenoleukodystrophy.
Adrenoleukodystrophy. Handb Clin Neurol. 2024; 204:133-138.
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
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 10 10; 391(14):1287-1301.
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Sirens and sphingolipids: What lures hematopoietic stem cells to the nervous system? Mol Ther. 2024 Oct 02; 32(10):3199-3200.
Sirens and sphingolipids: What lures hematopoietic stem cells to the nervous system?
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
Characterizing visual processing deficits in cerebral adrenoleukodystrophy. Brain Dev. 2024 Nov; 46(10):344-350.
Characterizing visual processing deficits in cerebral adrenoleukodystrophy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials. Neurotherapeutics. 2024 Jul; 21(4):e00443.
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
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
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2024 10 10; 391(14):1302-1312.
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy. Neurol Genet. 2024 Oct; 10(5):e200192.
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
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
Systemic complications of Aicardi Goutières syndrome using real-world data. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108578.
Systemic complications of Aicardi Goutières syndrome using real-world data.
Gene therapy for neurologic disorders. Neurotherapeutics. 2024 Jul; 21(4):e00453.
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
Molecular therapy. Methods & clinical development
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.
An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.
Nagy A, Eichler F, Bley A, Bredow J, Fay A, Townsend EL, Leiro B, Shaywitz A, Laforet G, Crippen-Harmon D, Williams R
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease. Hum Gene Ther. 2024 Jan; 36(1-2):45-56.
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials. JAMA Neurol. 2025 May 01; 82(5):429-430.
An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials.
Kurtz JE, Deplanque G, Duclos B, Eichler F, Giron C, Limacher JM, Herbrecht R, Maloisel F, Oberling F, Bergerat JP, Dufour P
Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study. Gynecol Oncol. 1998 Sep; 70(3):414-7.
Paclitaxel-anthracycline combination chemotherapy in relapsing advanced ovarian cancer after platinum-based chemotherapy: a pilot study.
Grant NR, Li Y, De La Rosa Abreu L, Becker C, Wishart BD, Nagy A, Eichler FS, Sadjadi R
Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy. Neurology. 2025 Mar 11; 104(5):e213370.
Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.
Sullivan S, Stafstrom C, Grant N, David WS, Price F, Rubin L, Eichler F, Sadjadi R
Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis. Muscle Nerve. 2025 Jul; 72(1):114-118.
Prospective Dysphagia Assessment in Adult Patients With Nephropathic Cystinosis.
Rowe OE, Rangaprakash D, Eichler FS, Schmahmann JD, Barry RL, Stephen CD
Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation. Cerebellum. 2025 Feb 18; 24(2):50.
Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.
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
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis. Hum Gene Ther. 2025 Sep; 36(17-18):1248-1256.
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
Developmental medicine and child neurology
Seizures in childhood cerebral adrenoleukodystrophy. Dev Med Child Neurol. 2025 Nov; 67(11):1494-1500.
Seizures in childhood cerebral adrenoleukodystrophy.
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
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. NPJ Genom Med. 2025 May 09; 10(1):38.
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
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
Genetics in medicine : official journal of the American College of Medical Genetics
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. Genet Med. 2025 Jul; 27(7):101425.
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Pathophysiology of X-linked adrenoleukodystrophy. Biochimie. 2014 Mar; 98:135-42.
Pathophysiology of X-linked adrenoleukodystrophy.
Krishnamoorthy KS, Eichler F, Rapalino O, Frosch MP
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.
Case records of the Massachusetts General Hospital. Case 14-2014. An 11-month-old girl with developmental delay.
Musolino PL, Lund TC, Pan J, Escolar ML, Paker AM, Duncan CN, Eichler FS
Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature. Neuropediatrics. 2014 Jun; 45(3):e1.
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. Neuropediatrics. 2014 Jun; 45(3):169-74.
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
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial. Nat Med. 2025 Sep; 31(9):2927-2935.
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
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
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes. Mol Genet Metab. 2026 Jan; 147(1):109689.
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
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
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy. J Inherit Metab Dis. 2026 Mar; 49(2):e70157.
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy.
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
Diagnostic yield of genome sequencing in children with progressive movement disorders. Brain. 2026 Feb 05.
Diagnostic yield of genome sequencing in children with progressive movement disorders.
Wright MA, Demmitt-Rice C, Van Haren KP, Lund TC, Eichler F, Bonkowsky JL
Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions. J Child Neurol. 2026 Feb; 41(2):221-234.
Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.
Ramirez Alcantara J, Grant NR, Stanley T, Halper A, Eichler FS, Tritos NA
Hypogonadism in adult males with adrenoleukodystrophy. Ann Endocrinol (Paris). 2025 Sep; 86(5):102464.
Hypogonadism in adult males with adrenoleukodystrophy.
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
Risk of Seizures and Epilepsy in the Leukodystrophies. Pediatr Neurol. 2026 Jan; 174:20-28.
Risk of Seizures and Epilepsy in the Leukodystrophies.
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
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research. Neurology. 2026 Mar 10; 106(5):e214657.
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.
Fine AS, Sullivan-Fortin KO, Miettunen K, Emerson F, Sadjadi R, Fatemi A, Eichler F
Living with adrenoleukodystrophy: adult patient and caregiver perspectives. Orphanet J Rare Dis. 2026 Jan 08; 21(1):8.
Living with adrenoleukodystrophy: adult patient and caregiver perspectives.
Wei N, Pan J, Pop-Busui R, Othman A, Alecu I, Hornemann T, Eichler FS
Altered sphingoid base profiles in type 1 compared to type 2 diabetes. Lipids Health Dis. 2014 Oct 11; 13:161.
Altered sphingoid base profiles in type 1 compared to type 2 diabetes.
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 2015; 8:109-21.
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH, Eichler FS
Natural history and biomarkers in hereditary sensory neuropathy type 1. Muscle Nerve. 2015 Apr; 51(4):489-95.
Natural history and biomarkers in hereditary sensory neuropathy type 1.
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
Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):527-36.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
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
Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500.
Case definition and classification of leukodystrophies and leukoencephalopathies.
Gong Y, Mu D, Prabhakar S, Moser A, Musolino P, Ren J, Breakefield XO, Maguire CA, Eichler FS
Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy. Mol Ther. 2015 May; 23(5):824-834.
Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.
Clair C, Cohen MJ, Eichler F, Selby KJ, Rigotti NA
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.
The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis.
Jun BK, Chandra A, Kuljis D, Schmidt BP, Eichler FS
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.
Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS
Brain endothelial dysfunction in cerebral adrenoleukodystrophy. Brain. 2015 Nov; 138(Pt 11):3206-20.
Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
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
Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016 06; 118(2):65-9.
Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions.
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
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain. 2016 06; 139(Pt 6):1666-72.
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy. Neurology. 2016 06 14; 86(24):e248.
Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.
Eichler F, Ratai E, Carroll JJ, Masdeu JC
Inherited or acquired metabolic disorders. Handb Clin Neurol. 2016; 135:603-636.
Inherited or acquired metabolic disorders.
Imaging the Pathophysiology of AMN in Mice and Humans
MASS SPECTROMETRY RESOURCE FOR BIOLOGY AND MEDICINE
Safety, Tolerability and Biological Activity of L-serine in HSAN1.
The Role of Desoxysphingoid Bases in HSAN1
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
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.
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A
Metachromatic Leukodystrophy: An Assessment of Disease Burden. J Child Neurol. 2016 11; 31(13):1457-1463.
Metachromatic Leukodystrophy: An Assessment of Disease Burden.
Eichler FS, Barker PB, Cox C, Edwin D, Ulug AM, Moser HW, Raymond GV
Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy. Neurology. 2002 Mar 26; 58(6):901-7.
Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophy.
Eichler FS, Wang P, Wityk RJ, Beauchamp NJ, Barker PB
Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome. AJNR Am J Neuroradiol. 2002 May; 23(5):833-7.
Diffuse metabolic abnormalities in reversible posterior leukoencephalopathy syndrome.
Eichler FS, Itoh R, Barker PB, Mori S, Garrett ES, van Zijl PC, Moser HW, Raymond GV, Melhem ER
Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radiology. 2002 Oct; 225(1):245-52.
Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience.
Ito R, Melhem ER, Mori S, Eichler FS, Raymond GV, Moser HW
Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy. Neurology. 2001 Feb 27; 56(4):544-7.
Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy.
Horvath GA, Eichler F, Poskitt K, Stockler-Ipsiroglu S
Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy. Neuropediatrics. 2012 Feb; 43(1):48-52.
Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy.
Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler FS, Brown RH, Harmon J, Dunn TM
Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities. PNAS. 2009; 106(20):8186-91.
Identification of small subunits of serine palmitoyltransferase: multiple SPT isozymes with distinct substrate specificities
Urschitz MS, Eichler F, Popow C, Ipsiroglu OS
[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.
[Evaluation of the cardiorespiratory monitor SpiroGuard C for infants. Improved registration of respiratory events by new sensors and intelligent alarm management system].
Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects. Clin Perinatol. 1999 Dec; 26(4):905-46.
Cerebral Doppler sonography of the neonate. A résumé after 20 years and future aspects.
Eichler F, Tan WH, Shih VE, Grant PE, Krishnamoorthy K
Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency. J Child Neurol. 2006 Sep; 21(9):801-5.
Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.
Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS
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.
Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis. Pediatr Neurol. 2007 Nov; 37(5):317-23.
Magnetic resonance imaging evaluation of possible neonatal sinovenous thrombosis.
Garofalo K, Penno A, Schmidt BP, Lee HJ, Frosch MP, von Eckardstein A, Brown RH, Hornemann T, Eichler FS
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.
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Gerald Raymond, Florian Eichler, Sakkubai Naidu
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
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 09; 122(1-2):18-32.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Tan WH, Eichler FS, Hoda S, Lee MS, Baris H, Hanley CA, Grant PE, Krishnamoorthy KS, Shih VE
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature. Pediatrics. 2005 Sep; 116(3):757-66.
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature.
Ipsiroglu OS, Eichler F, Stöckler-Ipsiroglu S, Trattnig S
Cerebral blood flow velocities in an infant with moyamoya disease. Pediatr Neurol. 1999 Oct; 21(4):739-41.
Cerebral blood flow velocities in an infant with moyamoya disease.
Curiel J, Steinberg SJ, Bright S, Snowden A, Moser AB, Eichler F, Dubbs HA, Hacia JG, Ely JJ, Bezner J, Gean A, Vanderver A
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.
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.
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
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. N Engl J Med. 2017 10 26; 377(17):1630-1638.
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Immune response in leukodystrophies. Pediatr Neurol. 2007 Oct; 37(4):235-44.
Gong Y, Sasidharan N, Laheji F, Frosch M, Musolino P, Tanzi R, Kim DY, Biffi A, El Khoury J, Eichler F
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy. Ann Neurol. 2017 Nov; 82(5):813-827.
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS
Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011 Nov; 128(5):e1233-41.
Natural history of infantile G(M2) gangliosidosis.
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
ABCD1 dysfunction alters white matter microvascular perfusion. Brain. 2017 Dec 01; 140(12):3139-3152.
ABCD1 dysfunction alters white matter microvascular perfusion.
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschuetter A, Loes DJ, Kraegeloh-Mann I
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol. 2009 Nov; 30(10):1893-7.
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.
Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med. 2017 Dec 14; 377(24):2376-2385.
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
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
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.
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
Han G, Gupta SD, Gable K, Niranjanakumari S, Moitra P, Eichler F, Brown RH, Harmon JM, Dunn TM
Proceedings of the National Academy of Sciences of the United States of America
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.
Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities.
Krishnamoorthy KS, Eichler FS, Goyal NA, Small JE, Snuderl M
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.
Case records of the Massachusetts General Hospital. Case 3-2010. A 5-month-old boy with developmental delay and irritability.
Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother. 2011 Oct; 11(10):1485-96.
Childhood leukodystrophies: a clinical perspective.
Kurz H, Neunteufl R, Eichler F, Urschitz M, Tiefenthaler M
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.
Does professional counseling improve infant home monitoring? Evaluation of an intensive instruction program for families using home monitoring on their babies.