Associated Papers
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C et al.
Neurology. Genetics, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Ptak CP et al.
Brain : a Journal of Neurology, 2023
Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.
Lei L et al.
European Journal of Neurology, 2023
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V et al.
Annals of Neurology, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.
Comella M et al.
Case Reports in Pediatrics, 2022
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M et al.
European Journal of Neurology, 2021
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Hauw F et al.
European Journal of Neurology, 2021
Genetic and clinical spectrums in Korean Charcot-Marie-Tooth disease patients with myelin protein zero mutations.
Kim HJ et al.
Molecular Genetics & Genomic Medicine, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.
Chen B et al.
Frontiers in Neurology, 2021
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
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
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.
Rajabally YA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
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
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 of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.
Marttila M et al.
Journal of Neurology, 2012
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
Murphy SM et al.
Neuromuscular Disorders : Nmd, 2011
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
Lee YC et al.
Journal of Neurology, 2010
Asymmetric phenotype associated with rare myelin protein zero mutation.
Souayah N et al.
Journal of Clinical Neuromuscular Disease, 2010
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
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.
Wrabetz L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
Lee YC et al.
Journal of Neurology, 2005
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
Seeman P et al.
Neurology, 2004
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N et al.
Brain : a Journal of Neurology, 2003
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C et al.
Human Mutation, 2002
Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.
Watanabe M et al.
Neurology, 2002
Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
Young P et al.
Journal of Neurology, 2001
Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene.
Lagueny A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.
Donaghy M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2000
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Mersiyanova IV 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
Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
Lagueny A et al.
Neuromuscular Disorders : Nmd, 1999
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Nelis E et al.
Journal of Medical Genetics, 1994