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Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM. Galatolo D, et al. Among authors: kuo me. Hum Mutat. 2020 Jul;41(7):1232-1237. doi: 10.1002/humu.24024. Epub 2020 Apr 29. Hum Mutat. 2020. PMID: 32333447 Free PMC article.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L. Markovitz R, et al. Among authors: kuo me. Am J Med Genet A. 2020 May;182(5):1167-1176. doi: 10.1002/ajmg.a.61544. Epub 2020 Mar 17. Am J Med Genet A. 2020. PMID: 32181591 Free PMC article.
14 results