Ganetzky Laboratory Publications

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Below is a list of publications from the Ganetzky Laboratory.

Broadening the Phenotypic Spectrum of Pearson Syndrome: Five New Cases and a Review of the Literature
Am J Med Genet A · February, 2020
Delineating MT-ATP6-associated Disease: From Isolated Neuropathy to Early Onset Neurodegeneration
Neurol Genet · January, 2020
MT-ATP6 Mitochondrial Disease Variants: Phenotypic and Biochemical Features Analysis in 218 Published Cases and Cohort of 14 New Cases
Hum Mutat · May, 2019
USMG5 Ashkenazi Jewish Founder Mutation Impairs Mitochondrial Complex V Dimerization and ATP Synthesis
Hum Mol Genet · October, 2018
8-year Retrospective Analysis of Intravenous Arginine Therapy for Acute Metabolic Strokes in Pediatric Mitochondrial Disease
Mol Genet Metab · March, 2018