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Page 1
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: ganetzky r. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Barca E, et al. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231. Hum Mol Genet. 2018. PMID: 29917077 Free PMC article.
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Among authors: ganetzky r. Ann Neurol. 2020 Aug;88(2):218-232. doi: 10.1002/ana.25789. Epub 2020 Jun 13. Ann Neurol. 2020. PMID: 32445240
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R. Sheppard SE, et al. Among authors: ganetzky r. Am J Med Genet A. 2021 Feb;185(2):566-570. doi: 10.1002/ajmg.a.61978. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33251707 Free PMC article.
Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Zolkipli-Cunningham Z, Ganetzky R, Falk MJ, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Among authors: ganetzky r. Ann Neurol. 2021 Mar;89(3):631-633. doi: 10.1002/ana.25999. Epub 2021 Jan 5. Ann Neurol. 2021. PMID: 33368550 No abstract available.
94 results