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
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
Seeman P et al.
Neurology, 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
Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
Nowakowski A et al.
Acta Biochimica Polonica, 2004
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
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
Point mutation analysis of archived cytogenetic slide DNA.
Sago H et al.
Cytogenetics and Cell Genetics, 1996
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Nelis E et al.
Journal of Medical Genetics, 1994
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
Su Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 1993