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A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006246. doi: 10.1101/mcs.a006246. Print 2022 Dec.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 36307205
Free PMC article.
A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family.
Theuriet J, Marte S, Isapof A, de Becdelièvre A, Konyukh M, Laureano-Figueroa SM, Latour P, Quadrio I, Maisonobe T, Antonellis A, Stojkovic T.
Theuriet J, et al. Among authors: laureano figueroa sm.
J Peripher Nerv Syst. 2024 May 20. doi: 10.1111/jns.12635. Online ahead of print.
J Peripher Nerv Syst. 2024.
PMID: 38769024
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