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Molecular Genetics and Metabolism|July 10, 2012
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type ISaumya S Jamuar, Stephanie A Newton, Sanjay P Prabhu, et al.
EMBO Molecular Medicine|August 23, 2021
Gene therapy in the putamen for curing AADC deficiency and Parkinson's diseasePaul Wuh-Liang Hwu, Karl Kiening, Irina Anselm, et al.
Annals of the Child Neurology Society|August 7, 2026
Patient selection considerations for AADC deficiency gene therapyAgathe Roubertie, Irina Anselm, Bruria Ben-Zeev, et al.
JIMD Reports|September 14, 2022
Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorderMilena M Andzelm, Shanti Balasubramaniam, Edward Yang, et al.
Molecular Genetics and Metabolism|July 23, 2018
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelinationLance H Rodan, Wanshu Qi, Gregory S Ducker, et al.
JIMD Reports|June 27, 2019
Phenotypic variability in deficiency of the α subunit of succinate-CoA ligaseDidem Demirbas, David J Harris, Pamela H Arn, et al.
Cold Spring Harbor Molecular Case Studies|March 17, 2017
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infantSarah U Morton, Sanjay P Prabhu, Hart G W Lidov, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotypeValerie Gartner, Thomas C Markello, Ellen Macnamara, et al.
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