Associated Papers
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
Structural bases for the Charcot-Marie-Tooth disease induced by single amino acid substitutions of myelin protein zero.
Sakakura M et al.
Structure (london, England : 1993), 2023
Thr124Met myelin protein zero mutation mimicking motor neuron disease.
Bisogni G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
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 Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
Leal A et al.
Revista De Biologia Tropical, 2014
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
Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy.
Finsterer J et al.
European Journal of Neurology, 2006
Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
Kurihara S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Auer-Grumbach M et al.
Neurology, 2003
Axonal and demyelinating forms of the MPZ Thr124Met mutation.
Kurihara S et al.
Acta Neurologica Scandinavica, 2003
Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
Matsuyama W et al.
Acta Neuropathologica, 2002
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
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met.
Senderek J et al.
Brain Pathology (zurich, Switzerland), 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
An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan.
Kurihara S et al.
Neuroepidemiology, 0