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Ganetzky Laboratory Publications
Below is a list of publications from the Ganetzky Laboratory.
Wild KT, Goldstein AC, Muraresku C, Ganetzky RD. Broadening the Phenotypic Spectrum of Pearson Syndrome: Five New Cases and a Review of the Literature. Am J Med Genet A. 2020 Feb; 182(2):365-373. PMID: 31825167
Stendel C, Neuhofer C, Floride E, Shi Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Felix Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, TKlopstock T, ATP6 Study Group. Delineating MT-ATP6-associated Disease: From Isolated Neuropathy to Early Onset Neurodegeneration. Neurol Genet. 2020 Jan; 6(1):e393. PMID: 32042921
Ganetzky, RD, Stendel C, McCormick, EM, Zolkipli-Cunningham Z, Goldstein AC, Kloptock T, Falk MJ. MT-ATP6 Mitochondrial Disease Variants: Phenotypic and Biochemical Features Analysis in 218 Published Cases and Cohort of 14 New Cases. Hum Mutat. 2019 May; 40(5):499-515. PubMed PMID: 30763462
Barca E, Ganetzky RD, Prasanth Potluri P, Juanola-Falgarona M, Gai X, Li D, Chaim Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Hasan O Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. USMG5 Ashkenazi Jewish Founder Mutation Impairs Mitochondrial Complex V Dimerization and ATP Synthesis. Hum Mol Genet. 2018 Oct; 27(19):3305-3312. PMID: 29917077
Ganetzky RD, Falk MJ. 8-year Retrospective Analysis of Intravenous Arginine Therapy for Acute Metabolic Strokes in Pediatric Mitochondrial Disease. Mol Genet Metab. 2018 Mar; 123(3):301-308. PMID: 29428506