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Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Beijer D, Marte S, Li JC, De Ridder W, Chen JZ, Tadenev ALD, Miers KE, Deconinck T, Macdonell R, Marques W Jr, De Jonghe P, Pratt SL, Meyer-Schuman R, Züchner S, Antonellis A, Burgess RW, Baets J. Beijer D, et al. Among authors: meyer schuman r. Brain Commun. 2024 Mar 8;6(2):fcae070. doi: 10.1093/braincomms/fcae070. eCollection 2024. Brain Commun. 2024. PMID: 38495304
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: meyer schuman r. 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.
A recurrent GARS mutation causes distal hereditary motor neuropathy.
Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. Lee DC, et al. Among authors: meyer schuman r. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22. J Peripher Nerv Syst. 2019. PMID: 31628756 Free PMC article.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Morelli KH, et al. Among authors: meyer schuman r. J Clin Invest. 2019 Dec 2;129(12):5568-5583. doi: 10.1172/JCI130600. J Clin Invest. 2019. PMID: 31557132 Free PMC article.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS. Kuo ME, et al. Among authors: meyer schuman r. Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26. Am J Hum Genet. 2019. PMID: 30824121 Free PMC article.
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