Associated Papers
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
39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
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
Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63.
Lin KP et al.
Clinical Neurology and Neurosurgery, 2012
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
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