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A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Hum Mol Genet. 2022 Dec 16;31(24):4255-4274. doi: 10.1093/hmg/ddac170.
Hum Mol Genet. 2022.
PMID: 35908287
Free PMC article.
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.
Callegari I, Gemelli C, Geroldi A, Veneri F, Mandich P, D'Antonio M, Pareyson D, Shy ME, Schenone A, Prada V, Grandis M.
Callegari I, et al.
J Neurol. 2019 Nov;266(11):2629-2645. doi: 10.1007/s00415-019-09453-3. Epub 2019 Jul 5.
J Neurol. 2019.
PMID: 31278453
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Early onset demyelinating Charcot-Marie-Tooth disease caused by a novel in-frame isoleucine deletion in peripheral myelin protein 2.
Geroldi A, Prada V, Veneri F, Trevisan L, Origone P, Grandis M, Schenone A, Gemelli C, Lanteri P, Fossa P, Mandich P, Bellone E.
Geroldi A, et al.
J Peripher Nerv Syst. 2020 Jun;25(2):102-106. doi: 10.1111/jns.12375. Epub 2020 May 4.
J Peripher Nerv Syst. 2020.
PMID: 32277537
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Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.
Touvier T, Veneri FA, Claessens A, Ferri C, Mastrangelo R, Sorgiati N, Bianchi F, Valenzano S, Del Carro U, Rivellini C, Duong P, Shy ME, Kelly JW, Svaren J, Wiseman RL, D'Antonio M.
Touvier T, et al. Among authors: veneri fa.
bioRxiv [Preprint]. 2024 Feb 2:2024.01.31.577760. doi: 10.1101/2024.01.31.577760.
bioRxiv. 2024.
PMID: 38352425
Free PMC article.
Preprint.
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