Associated Papers
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C et al.
Neurology. Genetics, 2025
Loss of function MPZ mutation causes milder CMT1B neuropathy.
Howard P et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants.
Ferese R et al.
Frontiers in Genetics, 2021
Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease.
Moldovan M et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2020
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 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
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
A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
Luigetti M et al.
Clinical Neurology and Neurosurgery, 2010
Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.
De Angelis MV et al.
Neurology, 2004
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A et al.
Neurogenetics, 2003
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