Associated Papers
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA et al.
Human Molecular Genetics, 2022
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C et al.
Life (basel, Switzerland), 2022
35330153 (PubMed )
Supplement: life-12-00402-s001.zip › life-1601193-supplementary.xlsx › Foglio1
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
In silico and in vitro effects of the I30T mutation on myelin protein zero instability in the cell membrane.
Ghanavatinejad F et al.
Cell Biology International, 2020
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
Mandich P et al.
European Journal of Human Genetics : Ejhg, 2009
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