IrinaA.AnselmMD

PubMed

• Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.
  Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H Rodan, David R Thorburn, John Christodoulou, S...> ;JIMD Reports. 2022 Sep 1
• 15 citations
  Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.
  Paul Wuh-Liang Hwu, Karl L. Kiening, Irina Anselm, David R Compton, Takeshi Nakajima, Thomas Opladen, Phillip L. Pearl, Agathe Roubertie, Thomas Roujeau, Shin-ichi Mur...> ;EMBO Molecular Medicine. 2021 Sep 7
• 24 citations
  Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
  Cristan Farmer, Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett, Leandra N. Berry, Aleksandra Bruchey, Bruce A. Barshop, Elizabeth Berry-...> ;American Journal on Intellectual and Developmental Disabilities. 2020 Nov 1
• 54 citations
  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
  Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Barañano, Lauren C. Briere, Julie S. Cohen, Willi...> ;American Journal of Human Genetics. 2020 Aug 6
• 19 citations
  Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
  Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir...> ;American Journal of Human Genetics. 2020 Apr 2
• First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants.
  Renkui Bai, Katrina Haude, Edward Yang, Amy Goldstein, Irina Anselm> ;Clinical Genetics. 2020 Mar 5
• 1 citations
  A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.
  Julia Han, Terry Jo Bichell, Stephanie Golden, Irina Anselm, Susan E. Waisbren, Carlos A. Bacino, Sarika U. Peters, Lynne M. Bird, Virginia Kimonis> ;Orphanet Journal of Rare Diseases. 2019 Oct 22
• 42 citations
  Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region
  McKenna Kelly, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez-Palma, Erika Axeen, Christina Hung, Heather E. Olson, Lindsay C. Swanson, Irina A...> ;Epilepsia. 2019 Mar 1
• 5 citations
  Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.
  Didem Demirbas, David J. Harris, Pamela Arn, Xiaoping Huang, Susan E. Waisbren, Irina Anselm, Jordan P Lerner-Ellis, Lee-Jun C. Wong, Harvey L. Levy, Gerard T. Berry> ;JIMD Reports. 2019 Mar 14
• 18 citations
  Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
  Valerie Gartner, Thomas C. Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan H. Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, C...> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 12 citations
  5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination
  Lance H. Rodan, Wanshu Qi, Gregory S. Ducker, Didem Demirbas, Regina Laine, Edward Yang, Melissa A. Walker, Florian Eichler, Joshua D. Rabinowitz, Irina Anselm, Gerard...> ;Molecular Genetics and Metabolism. 2018 Sep 1
• 13 citations
  The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases.
  Darius Ebrahimi-Fakhari, Clara C. Hildebrandt, Peter E. Davis, Lance H. Rodan, Irina Anselm, Olaf Bodamer> ;Movement Disorders Clinical Practice. 2018 Mar 1
• 1 citations
  Response to Newman et al.
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Oct 26
• 179 citations
  Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Jul 27
• Brain involvement in Charcot-Marie-Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation.
  Fouad Al-Ghamdi, Irina Anselm, Edward Yang, Partha S. Ghosh> ;Neuromuscular Disorders. 2017 Sep 1
• 1 citations
  GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A
  Patricia L. Hall, Regina Laine, John J. Alexander, Arunkanth Ankala, Lisa A. Teot, Hart G.W. Lidov, Irina Anselm> ;JIMD Reports. 2017 May 25
• 21 citations
  Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DN...
  Xiaoping Huang, Jirair K. Bedoyan, Didem Demirbas, David J. Harris, Alexander Miron, Simone Edelheit, George Grahame, Suzanne D. DeBrosse, Lee-Jun C. Wong, Charles L. ...> ;Molecular Genetics and Metabolism. 2017 Mar 1
• 33 citations
  AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.
  Sarah U. Morton, Sanjay P. Prabhu, Hart G.W. Lidov, Jiahai Shi, Irina Anselm, Catherine A. Brownstein, Matthew N. Bainbridge, Alan H. Beggs, Sara O. Vargas, Pankaj B. ...> ;Cold Spring Harbor Molecular Case Studies. 2017 Mar 1
• 15 citations
  De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
  Lance H. Rodan, Christelle Moufawad El Achkar, Gerard T. Berry, Annapurna Poduri, Sanjay P. Prabhu, Edward Yang, Irina Anselm> ;Journal of Child Neurology. 2017 Jan 1
• Erratum to: Disease Heterogeneity in Na + /Citrate Cotransporter Deficiency
  Irina Anselm, Morgan MacCuaig, Sanjay P. Prabhu, Gerard T. Berry> ;JIMD Reports. 2016 Jun 21
• 27 citations
  Mutations in the Substrate Binding Glycine-Rich Loop of the Mitochondrial Processing Peptidase-α Protein (PMPCA) Cause a Severe Mitochondrial Disease
  Mugdha Joshi, Irina Anselm, Jiahai Shi, Tejus A. Bale, Meghan C. Towne, Klaus Schmitz-Abe, Laura Crowley, Felix C. Giani, Shideh Kazerounian, Kyriacos Markianos, Hart ...> ;Cold Spring Harbor Molecular Case Studies. 2016 May 1
• 34 citations
  Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation A Multicenter Case Series
  Marisela E. Dy, Florence C.F. Chang, Sol De Jesus, Irina Anselm, Neil Mahant, Pamela Zeilman, Lance H. Rodan, Kelly D. Foote, Wen-Hann Tan, Emad N. Eskandar, Nutan Sha...> ;Journal of Child Neurology. 2016 Apr 6
• 11 citations
  Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency
  Irina Anselm, Morgan MacCuaig, Sanjay B. Prabhu, Gerard T. Berry> ;JIMD Reports. 2016 Mar 10
• 17 citations
  Adrenal Insufficiency in Mitochondrial Disease A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature
  Laurel Calderwood, Ingrid A. Holm, Lisa A. Teot, Irina Anselm> ;Journal of Child Neurology. 2016 Feb 1
• 307 citations
  Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Bruce H. Cohen, Marni J. Falk, Carol L. Greene, Andre...> ;Genetics in Medicine. 2015 Sep 2
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Journal Articles

• The Spectrum of Movement Disorders in Childhood‐Onset Lysosomal Storage Diseases  
  Peter E Davis, Clara Hildebrandt, Irina Anselm, Lance H Rodan, Movement Disorders Clinical Practice