Associated Papers
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
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.
Corrado L et al.
Neuromuscular Disorders : Nmd, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
Taioli F et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
Yoshihara T et al.
Journal of the Peripheral Nervous System : Jpns, 2002
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