Associated Papers
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C et al.
Neurology. Genetics, 2025
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 2025
MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.
Hao X et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.
Chen B et al.
Frontiers in Neurology, 2021
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
Gentile L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia.
Yiu EM et al.
Seminars in Pediatric Neurology, 2018
Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.
Hobbelink SMR et al.
Brain and Behavior, 2018
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.
Bai Y et al.
Annals of Clinical and Translational Neurology, 2018
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Wang Y et al.
Scientific Reports, 2016
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O et al.
Brain : a Journal of Neurology, 2015
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A et al.
Journal of Theoretical Biology, 2015
A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
Kochanski A et al.
Neuromuscular Disorders : Nmd, 2004
Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Kochański A et al.
European Journal of Neurology, 2003
Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
Matsuyama W et al.
Acta Neuropathologica, 2002
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Yoshihara T et al.
Human Mutation, 2000
Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.
Ohnishi A et al.
Journal of the Neurological Sciences, 1999