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Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|March 22, 2013
Mitochondrial disease in childhood: nuclear encodedAmy C Goldstein, Poonam Bhatia, Jodie M Vento
American Journal of Medical Genetics. Part A|December 12, 2019
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literatureK Taylor Wild, Amy C Goldstein, Colleen Muraresku, et al.
Molecular Genetics and Metabolism Reports|May 23, 2015
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergeticsDolly Prabhu, Amy C Goldstein, Riyad El-Khoury, et al.
Topics in Magnetic Resonance Imaging : TMRI|August 8, 2018
Neuroimaging of Mitochondrial CytopathiesCésar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Dominik Grieb, et al.
Human Mutation|February 15, 2019
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new casesRebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, et al.
JIMD Reports|March 13, 2013
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizuresDina Belachew, Traci Kazmerski, Ingrid Libman, et al.
Orphanet Journal of Rare Diseases|August 5, 2025
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomesLaura E MacMullen, Elizabeth Reynolds, Marissa Weis, et al.
Acta Neuropathologica|March 18, 2022
BTK inhibition limits B-cell-T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapyRui Li, Hao Tang, Jeremy C Burns, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Characterization of the renal phenotype in RMND1-related mitochondrial diseaseBrian J Shayota, Nhon T Le, Nasim Bekheirnia, et al.
Plos One|September 4, 2019
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromesMargaret A Gustafson, Elizabeth M McCormick, Lalith Perera, et al.
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