Associated Papers
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA et al.
Human Molecular Genetics, 2022
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
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
Yonekawa T et al.
Pediatric Neurology, 2013
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
Smit LS et al.
Neuromuscular Disorders : Nmd, 2008
A novel MPZ gene mutation in congenital neuropathy with hypomyelination.
Kochanski A 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
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