Associated Papers
Computational prioritization of deleterious human myelin protein zero gene mutations reveals structural disruption and potential myelin dysfunction through dynamic simulations and stability analysis.
Alhassan HH et al.
Journal of Biomolecular Structure & Dynamics, 2025
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C et al.
European Journal of Neurology, 2023
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C et al.
Life (basel, Switzerland), 2022
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
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 spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Quantifying gait impairment in individuals affected by Charcot-Marie-Tooth disease: the usefulness of gait profile score and gait variable score.
Coghe G et al.
Disability and Rehabilitation, 2020
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
Fabrizi GM et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2018
Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing.
Gagliardi S et al.
The British Journal of Dermatology, 2017
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Lorefice L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
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
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
Lee YC et al.
Journal of Neurology, 2010
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
Seeman P et al.
Neurology, 2004
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
Berghoff C et al.
Neuromuscular Disorders : Nmd, 2004
Mutations in the Myelin Protein Zero result in a spectrum of Charcot-Marie-Tooth phenotypes.
Kochański A
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2004
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Santoro L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
Nowakowski A et al.
Acta Biochimica Polonica, 2004
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
Misu K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2000
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Meuleman J et al.
Acta Neurologica Belgica, 2000
[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].
Misu K et al.
Rinsho Shinkeigaku = Clinical Neurology, 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
[Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation].
Auer-Grumbach M et al.
Der Nervenarzt, 1999
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Nelis E et al.
Neurogenetics, 1999
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
De Jonghe P et al.
Brain : a Journal of Neurology, 1999
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Nelis E et al.
Human Mutation, 1999
2nd Workshop of the European CMT Consortium: 53rd ENMC International Workshop on Classification and Diagnostic Guidelines for Charcot-Marie-Tooth Type 2 (CMT2-HMSN II) and Distal Hereditary Motor Neuropathy (distal HMN-Spinal CMT) 26-28 September 1997, Naarden, The Netherlands.
Unknown Author
Neuromuscular Disorders : Nmd, 1998
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Marrosu MG et al.
Neurology, 1998
[Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family].
Auer-Grumbach M et al.
Der Nervenarzt, 1996
An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan.
Kurihara S et al.
Neuroepidemiology, 0