Anselm, Irina
eCommons Login: IA3
first name: Irina
last name: Anselm
coauthor of: Berry, Gerard
coauthor of: Darras, Basil
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coauthor of: Yang, Edward
coauthor of: Prabhu, Sanjay
full name: Irina Anselm, M.D.
has faculty rank: Assistant Professor
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person in primary position: Assistant Professor of Neurology
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selected publications: Authorship 1835845
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selected publications: Authorship 105655
selected publications: Authorship 191573
selected publications: Authorship 401
selected publications: Authorship 511630
selected publications: Authorship 34666
selected publications: Authorship 175940
selected publications: Authorship 413067
selected publications: Authorship 335224
selected publications: Authorship 90220
selected publications: Authorship 362828
selected publications: Authorship 129928
research areas: Mitochondrial Diseases

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Childhood primary angiitis of the central nervous system: two biopsy-proven cases.
PubMed Identifier: 15520782
author list: Yaari R, Anselm IA, Szer IS, Malicki DM, Nespeca MP, Gleeson JG
published in: The Journal of pediatrics
information resource reference: Childhood primary angiitis of the central nervous system: two biopsy-proven cases. J Pediatr. 2004 Nov; 145(5):693-7.
journal title abbreviation: J Pediatr
publication date: 2004-11-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
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Authorship 1074128
type: Authorship
author rank in publication: 5
linked author: Anselm, Irina
linked information resource: The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
PubMed Identifier: 29930972
author list: Ebrahimi-Fakhari D, Hildebrandt C, Davis PE, Rodan LH, Anselm I, Bodamer O
published in: Movement disorders clinical practice
information resource reference: The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. Mov Disord Clin Pract. 2018 Mar-Apr; 5(2):149-155.
journal title abbreviation: Mov Disord Clin Pract
publication date: 2017-12-10T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.
PubMed Identifier: 20635355
author list: Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA
published in: American journal of medical genetics. Part A
information resource reference: Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001.
journal title abbreviation: Am J Med Genet A
publication date: 2010-08-01T00:00:00
year: 2010
type: Academic Article
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Authorship 1084622
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author rank in publication: 10
linked author: Anselm, Irina
linked information resource: 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.

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
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Authorship 105655
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author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Angelman syndrome: Mutations influence features in early childhood.

Authorship 129928
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author rank in publication: 2
linked author: Anselm, Irina
linked information resource: Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.
PubMed Identifier: 22771013
author list: Jamuar SS, Newton SA, Prabhu SP, Hecht L, Costas KC, Wessel AE, Harris DJ, Anselm I, Berry GT
published in: Molecular genetics and metabolism
information resource reference: Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I. Mol Genet Metab. 2012 Aug; 106(4):488-90.
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Authorship 1119126
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linked author: Anselm, Irina
linked information resource: Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
PubMed Identifier: 30548380
author list: Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, Beggs A, Schmahmann JD, Berry GT, Anselm I, Boslet E, Tifft CJ, Gahl WA, Lee PR
published in: American journal of medical genetics. Part A
information resource reference: Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype. Am J Med Genet A. 2018 12; 176(12):2768-2776.
journal title abbreviation: Am J Med Genet A
publication date: 2018-12-11T00:00:00
year: 2018
type: Academic Article
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Authorship 1128008
type: Authorship
author rank in publication: 11
linked author: Anselm, Irina
linked information resource: Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
PubMed Identifier: 30682224
author list: Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A
published in: Epilepsia
information resource reference: Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia. 2019 03; 60(3):406-418.
journal title abbreviation: Epilepsia
publication date: 2019-01-25T00:00:00
year: 2019
type: Academic Article
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Lissencephaly
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Atrophy
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Mitochondrial Diseases
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Cytochrome Reductases
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number of authors: 9
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Plasma Membrane Neurotransmitter Transport Proteins
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Neurology
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Boston Children's Hospital
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Massachusetts General Hospital
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Mootha, Vamsi
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Maski, Kiran
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Walsh, Christopher
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Olson, Heather
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Takeoka, Masanori
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Yang, Edward
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Berry, Gerard
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person in primary position: Professor of Pediatrics
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Darras, Basil
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Alkuraya, Fowzan
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Barkoudah Buras, Elizabeth
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Chen, Chinfei
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Prabhu, Sanjay
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first name: Sanjay
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person in primary position: Assistant Professor of Radiology
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Authorship 1164759
type: Authorship
author rank in publication: 6
linked author: Anselm, Irina
linked information resource: Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.

Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase.
PubMed Identifier: 31240156
author list: Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT
published in: JIMD reports
information resource reference: Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69.
journal title abbreviation: JIMD Rep
publication date: 2019-03-14T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1199771
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
PubMed Identifier: 31640736
author list: Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V
published in: Orphanet journal of rare diseases
information resource reference: A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232.
journal title abbreviation: Orphanet J Rare Dis
publication date: 2019-10-22T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1232602
type: Authorship
author rank in publication: 5
linked author: Anselm, Irina
linked information resource: First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.

First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
PubMed Identifier: 32133637
author list: Bai R, Haude K, Yang E, Goldstein A, Anselm I
published in: Clinical genetics
information resource reference: First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants. Clin Genet. 2020 05; 97(5):793-794.
journal title abbreviation: Clin Genet
publication date: 2020-03-05T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 175940
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

Authorship 1237217
type: Authorship
author rank in publication: 33
linked author: Anselm, Irina
linked information resource: Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
PubMed Identifier: 32220290
author list: Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM
published in: American journal of human genetics
information resource reference: Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 04 02; 106(4):484-495.
journal title abbreviation: Am J Hum Genet
publication date: 2020-03-26T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 191573
type: Authorship
author rank in publication: 9
linked author: Anselm, Irina
linked information resource: Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

Authorship 1268765
type: Authorship
author rank in publication: 6
linked author: Anselm, Irina
linked information resource: De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
PubMed Identifier: 32693025
author list: Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J
published in: American journal of human genetics
information resource reference: De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
journal title abbreviation: Am J Hum Genet
publication date: 2020-07-20T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1306890
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
PubMed Identifier: 33211814
author list: Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS
published in: American journal on intellectual and developmental disabilities
information resource reference: Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480.
journal title abbreviation: Am J Intellect Dev Disabil
publication date: 2020-11-01T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1348831
type: Authorship
author rank in publication: 28
linked author: Anselm, Irina
linked information resource: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
PubMed Identifier: 33874999
author list: Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A, Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K, Earl RK, Nowakowski T, Bernier RA, Eichler EE
published in: Genome medicine
information resource reference: Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63.
journal title abbreviation: Genome Med
publication date: 2021-04-19T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1388993
type: Authorship
author rank in publication: 3
linked author: Anselm, Irina
linked information resource: Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
PubMed Identifier: 34423905
author list: Hwu PW, Kiening K, Anselm I, Compton DR, Nakajima T, Opladen T, Pearl PL, Roubertie A, Roujeau T, Muramatsu SI
published in: EMBO molecular medicine
information resource reference: Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease. EMBO Mol Med. 2021 09 07; 13(9):e14712.
journal title abbreviation: EMBO Mol Med
publication date: 2021-08-23T00:00:00
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type: Document
type: Information Resource

Rodan, Lance
eCommons Login: LHR8
first name: Lance
last name: Rodan
full name: Lance H Rodan, M.D.
has faculty rank: Assistant Professor
Person ID: 119175
person in primary position: Assistant Professor of Pediatrics
type: Agent
type: Person
preferred title: Assistant Professor of Pediatrics

Authorship 1482170
type: Authorship
author rank in publication: 7
linked author: Anselm, Irina
linked information resource: Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.
PubMed Identifier: 36101822
author list: Andzelm MM, Balasubramaniam S, Yang E, Compton AG, Millington K, Zhu J, Anselm I, Rodan LH, Thorburn DR, Christodoulou J, Srivastava S
published in: JIMD reports
information resource reference: Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder. JIMD Rep. 2022 Sep; 63(5):391-399.
journal title abbreviation: JIMD Rep
publication date: 2022-08-23T00:00:00
year: 2022
type: Academic Article
type: Article
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type: Information Resource

Chung, Wendy
eCommons Login: wec138
first name: Wendy
last name: Chung
full name: Wendy Chung, M.D., Ph.D.
has faculty rank: Full Professor
Person ID: 214837
person in primary position: Mary Ellen Avery Professor of Pediatrics
type: Agent
type: Person
preferred title: Mary Ellen Avery Professor of Pediatrics

Authorship 401
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: A modern approach to the treatment of mitochondrial disease.

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

Authorship 648996
type: Authorship
author rank in publication: 6
linked author: Anselm, Irina
linked information resource: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
PubMed Identifier: 23644449
author list: van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS
published in: Journal of medical genetics
information resource reference: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul; 50(7):463-72.
journal title abbreviation: J Med Genet
publication date: 2013-05-03T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
PubMed Identifier: 39883904
author list: Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL
published in: Neurology
information resource reference: Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology. 2025 Feb 25; 104(4):e209779.
journal title abbreviation: Neurology
publication date: 2025-01-30T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1733375
type: Authorship
author rank in publication: 2
linked author: Anselm, Irina
linked information resource: Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Authorship 1753210
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley.

Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley.
PubMed Identifier: 40408274
author list: Brown SD, Kennedy KO, Holder-Niles FF, Anselm IA, Snyder BD, Fogelman D, Kirber MF, Kober G, Holm I, Marron JM
published in: The American journal of bioethics : AJOB
information resource reference: Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley. Am J Bioeth. 2025 May 23; 1-9.
journal title abbreviation: Am J Bioeth
publication date: 2025-05-23T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Thurm, Audrey
first name: Audrey
last name: Thurm
full name: Audrey Thurm, Ph.D.
has faculty rank: Other Faculty
Person ID: 19751
person in primary position: Member of Faculty in Psychology in the Department of Psychiatry
type: Agent
type: Person
preferred title: Member of Faculty in Psychology in the Department of Psychiatry

Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant.
PubMed Identifier: 41124630
author list: Jain V, Yang E, Goldstein A, Anselm IA, Alves C
published in: Neurology
information resource reference: Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant. Neurology. 2025 Nov 25; 105(10):e214365.
journal title abbreviation: Neurology
publication date: 2025-10-22T00:00:00
year: 2025
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 723908
type: Authorship
author rank in publication: 7
linked author: Anselm, Irina
linked information resource: Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.

Authorship 335224
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency.

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
PubMed Identifier: 24284555
author list: Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I
published in: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
information resource reference: Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar; 34(1):39-43.
journal title abbreviation: J Neuroophthalmol
publication date: 2014-03-01T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1782182
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Extensive Cerebellitis as a Key Neuroimaging Feature in a Child With MT-ATP6 Pathogenic Variant.

Authorship 1832215
type: Authorship
author rank in publication: 6
linked author: Anselm, Irina
linked information resource: Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Authorship 1835845
type: Authorship
author rank in publication: 7
linked author: Anselm, Irina
linked information resource: Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.
PubMed Identifier: 41635801
author list: Bowen AB, Nwanze C, Alves C, Rodan L, Pinto AL, Walker MA, Anselm I, Pearl PL
published in: JIMD reports
information resource reference: Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency. JIMD Rep. 2026 Mar; 67(2):e70072.
journal title abbreviation: JIMD Rep
publication date: 2026-02-01T00:00:00
year: 2026
type: Academic Article
type: Article
type: Document
type: Information Resource

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
PubMed Identifier: 41260060
author list: Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A
published in: Pediatric neurology
information resource reference: Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. Pediatr Neurol. 2026 Feb; 175:8-18.
journal title abbreviation: Pediatr Neurol
publication date: 2025-10-30T00:00:00
year: 2025
type: Academic Article
type: Article
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type: Information Resource

General Pediatrics
type: Division
type: Organization

Mary Ellen Avery Professor of Pediatrics
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position in department: Pediatrics
position in division: General Pediatrics
sort order: 1
type: Position
HR job title: Mary Ellen Avery Professor of Pediatrics
position in organization: Boston Children's Hospital

Member of Faculty in Psychology in the Department of Psychiatry
is primary position: true
position in department: Psychiatry
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Member of Faculty in Psychology in the Department of Psychiatry
position in organization: Boston Children's Hospital

Assistant Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Genetics
sort order: 1
type: Position
HR job title: Assistant Professor of Pediatrics
position in organization: Boston Children's 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: Boston Children's 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: Boston Children's Hospital

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: Professor of Neurology
position in organization: Boston Children's Hospital

Assistant Professor of Radiology
is primary position: true
position in department: Radiology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Radiology
position in organization: Boston Children's Hospital

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: Professor of Neurology
position in organization: Boston Children's Hospital

Instructor in Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Genetics
sort order: 1
type: Position
HR job title: Instructor in Pediatrics
position in organization: Boston Children's Hospital

Assistant Professor of Radiology
is primary position: true
position in department: Radiology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Radiology
position in organization: Boston Children's Hospital

Professor of Pediatrics
is primary position: true
position in department: Pediatrics
position in division: Genetics
sort order: 1
type: Position
HR job title: Professor of Pediatrics
position in organization: Boston Children's Hospital

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: Boston Children's 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: Boston Children's Hospital

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: Boston Children's Hospital

Bullard Professor of Pediatrics and Neurology
is primary position: true
position in department: Pediatrics
position in division: Genetics
sort order: 1
type: Position
HR job title: Bullard Professor of Pediatrics and Neurology
position in organization: Boston Children's Hospital

Authorship 34666
type: Authorship
author rank in publication: 5
linked author: Anselm, Irina
linked information resource: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Authorship 362828
type: Authorship
author rank in publication: 2
linked author: Anselm, Irina
linked information resource: Childhood primary angiitis of the central nervous system: two biopsy-proven cases.

Authorship 413067
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.

Authorship 803177
type: Authorship
author rank in publication: 9
linked author: Anselm, Irina
linked information resource: Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Authorship 806852
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1.
PubMed Identifier: 24597975
author list: van de Kamp JM, Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS
published in: Clinical genetics
information resource reference: Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1. Clin Genet. 2015 Feb; 87(2):141-7.
journal title abbreviation: Clin Genet
publication date: 2014-03-06T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.
PubMed Identifier: 23891656
author list: Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA
published in: Mitochondrion
information resource reference: Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33.
journal title abbreviation: Mitochondrion
publication date: 2013-07-26T00:00:00
year: 2013
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 90220
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

Authorship 298708
type: Authorship
author rank in publication: 6
linked author: Anselm, Irina
linked information resource: A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.

Authorship 835942
type: Authorship
author rank in publication: 7
linked author: Anselm, Irina
linked information resource: Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
PubMed Identifier: 25503498
author list: Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701.
journal title abbreviation: Genet Med
publication date: 2014-12-11T00:00:00
year: 2014
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 859053
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.

Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.
PubMed Identifier: 26018198
author list: Calderwood L, Holm IA, Teot LA, Anselm I
published in: Journal of child neurology
information resource reference: Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. J Child Neurol. 2016 Feb; 31(2):190-4.
journal title abbreviation: J Child Neurol
publication date: 2015-05-26T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 879985
type: Authorship
author rank in publication: 2
linked author: Anselm, Irina
linked information resource: Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease.

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease.
PubMed Identifier: 27148589
author list: Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB
published in: Cold Spring Harbor molecular case studies
information resource reference: Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786.
journal title abbreviation: Cold Spring Harb Mol Case Stud
publication date: 2016-05-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 887210
type: Authorship
author rank in publication: 4
linked author: Anselm, Irina
linked information resource: Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
PubMed Identifier: 27052971
author list: Dy ME, Chang FC, Jesus SD, Anselm I, Mahant N, Zeilman P, Rodan LH, Foote KD, Tan WH, Eskandar E, Sharma N, Okun MS, Fung VS, Waugh JL
published in: Journal of child neurology
information resource reference: Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series. J Child Neurol. 2016 07; 31(8):1027-35.
journal title abbreviation: J Child Neurol
publication date: 2016-04-06T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Assistant Professor
sort order: 2
type: Faculty Rank

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Other Faculty
sort order: 5
type: Faculty Rank

Authorship 70539
type: Authorship
author rank in publication: 8
linked author: Anselm, Irina
linked information resource: Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.

Authorship 927615
type: Authorship
author rank in publication: 7
linked author: Anselm, Irina
linked information resource: De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
PubMed Identifier: 27770045
author list: Rodan LH, El Achkar CM, Berry GT, Poduri A, Prabhu SP, Yang E, Anselm I
published in: Journal of child neurology
information resource reference: De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017 01; 32(1):127-131.
journal title abbreviation: J Child Neurol
publication date: 2016-10-23T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 938800
type: Authorship
author rank in publication: 12
linked author: Anselm, Irina
linked information resource: Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
PubMed Identifier: 27913098
author list: Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT
published in: Molecular genetics and metabolism
information resource reference: Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222.
journal title abbreviation: Mol Genet Metab
publication date: 2016-11-12T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 511630
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

Authorship 952158
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.

Authorship 952316
type: Authorship
author rank in publication: 1
linked author: Anselm, Irina
linked information resource: Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.

Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.
PubMed Identifier: 26960556
author list: Anselm I, MacCuaig M, Prabhu SB, Berry GT
published in: JIMD reports
information resource reference: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:107-111.
journal title abbreviation: JIMD Rep
publication date: 2016-03-10T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency.
PubMed Identifier: 27325426
author list: Anselm I, MacCuaig M, Prabhu SP, Berry GT
published in: JIMD reports
information resource reference: Erratum to: Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. JIMD Rep. 2017; 31:113.
journal title abbreviation: JIMD Rep
publication date: 2016-06-21T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.
PubMed Identifier: 11305689
author list: Rosman NP, Anselm I, Bhadelia RA
published in: Journal of child neurology
information resource reference: Progressive intracranial vascular disease with strokes and seizures in a boy with progeria. J Child Neurol. 2001 Mar; 16(3):212-5.
journal title abbreviation: J Child Neurol
publication date: 2001-03-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
PubMed Identifier: 16601897
author list: Anselm IA, Anselm IM, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, Mazumdar M, Rivkin M, Frye R, Poussaint TY, Marsden D
published in: Journal of inherited metabolic disease
information resource reference: X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis. 2006 Feb; 29(1):214-9.
journal title abbreviation: J Inherit Metab Dis
publication date: 2006-02-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 971606
type: Authorship
author rank in publication: 5
linked author: Anselm, Irina
linked information resource: AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
PubMed Identifier: 28299359
author list: Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB
published in: Cold Spring Harbor molecular case studies
information resource reference: AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560.
journal title abbreviation: Cold Spring Harb Mol Case Stud
publication date: 2017-03-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.
PubMed Identifier: 17030784
author list: Anselm IA, Darras BT
published in: Neurology
information resource reference: Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Oct 10; 67(7):1313; author reply 1313.
journal title abbreviation: Neurology
publication date: 2006-10-10T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

300 Longwood Ave
type: Address
address line 1: Childrens Hospital
address line 2: Neurology Fegan 11
address line 3: 300 Longwood Ave
city: Boston
postal code: 02115
state or province: MA

A modern approach to the treatment of mitochondrial disease.
PubMed Identifier: 19891905
author list: Parikh S, Saneto R, Falk MJ, Anselm I, Cohen BH, Haas R, Medicine Society TM
published in: Current treatment options in neurology
information resource reference: A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol. 2009 Nov; 11(6):414-30.
journal title abbreviation: Curr Treat Options Neurol
publication date: 2009-11-01T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 996765
type: Authorship
author rank in publication: 2
linked author: Anselm, Irina
linked information resource: Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.

Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.
PubMed Identifier: 28673555
author list: Al-Ghamdi F, Anselm I, Yang E, Ghosh PS
published in: Neuromuscular disorders : NMD
information resource reference: Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation. Neuromuscul Disord. 2017 Sep; 27(9):848-851.
journal title abbreviation: Neuromuscul Disord
publication date: 2017-06-07T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
PubMed Identifier: 19652145
author list: Anselm IA, Sweadner KJ, Gollamudi S, Ozelius LJ, Darras BT
published in: Neurology
information resource reference: Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology. 2009 Aug 04; 73(5):400-1.
journal title abbreviation: Neurology
publication date: 2009-08-04T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1006548
type: Authorship
author rank in publication: 5
linked author: Anselm, Irina
linked information resource: Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
PubMed Identifier: 28749475
author list: Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12).
journal title abbreviation: Genet Med
publication date: 2017-07-27T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
PubMed Identifier: 18805830
author list: Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL
published in: Journal of medical genetics
information resource reference: Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8.
journal title abbreviation: J Med Genet
publication date: 2008-09-19T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
PubMed Identifier: 22002941
author list: Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL
published in: American journal of medical genetics. Part A
information resource reference: A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
journal title abbreviation: Am J Med Genet A
publication date: 2011-10-14T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.
PubMed Identifier: 18443316
author list: Anselm IA, Coulter DL, Darras BT
published in: Neurology
information resource reference: Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29; 70(18):1642-4.
journal title abbreviation: Neurology
publication date: 2008-04-29T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1031739
type: Authorship
author rank in publication: 5
linked author: Anselm, Irina
linked information resource: Response to Newman et al.

Response to Newman et al.
PubMed Identifier: 29215644
author list: Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF
published in: Genetics in medicine : official journal of the American College of Medical Genetics
information resource reference: Response to Newman et al. Genet Med. 2017 12; 19(12).
journal title abbreviation: Genet Med
publication date: 2017-10-26T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Angelman syndrome: Mutations influence features in early childhood.
PubMed Identifier: 21204213
author list: Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM
published in: American journal of medical genetics. Part A
information resource reference: Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90.
journal title abbreviation: Am J Med Genet A
publication date: 2011-01-01T00:00:00
year: 2011
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1042353
type: Authorship
author rank in publication: 7
linked author: Anselm, Irina
linked information resource: GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.

GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
PubMed Identifier: 28540636
author list: Hall PL, Laine R, Alexander JJ, Ankala A, Teot LA, Lidov HGW, Anselm I
published in: JIMD reports
information resource reference: GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. JIMD Rep. 2018; 38:61-65.
journal title abbreviation: JIMD Rep
publication date: 2017-05-25T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency.
PubMed Identifier: 16876014
author list: Anselm IA, Darras BT
published in: Pediatric neurology
information resource reference: Catecholamine toxicity in aromatic L-amino acid decarboxylase deficiency. Pediatr Neurol. 2006 Aug; 35(2):142-4.
journal title abbreviation: Pediatr Neurol
publication date: 2006-08-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource