Associated Papers
Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.
McCulloch MK et al.
International Journal of Molecular Sciences, 2024
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
Fratta P et al.
Human Molecular Genetics, 2019
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
Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 missense mutations shown by iPSC-derived oligodendrocytes.
Numasawa-Kuroiwa Y et al.
Stem Cell Reports, 2014
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
P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.
Fratta P et al.
Human Molecular Genetics, 2011
Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.
Kleffner I et al.
Journal of Neurology, 2010
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
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
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations.
Inoue K et al.
Nature Genetics, 2004
Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.
Nowakowski A et al.
Acta Biochimica Polonica, 2004
Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
Plante-Bordeneuve V et al.
Muscle & Nerve, 2002
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
Dunne E et al.
Annals of Neurology, 1999
Congenital hypomyelination due to myelin protein zero Q215X mutation.
Mandich P et al.
Annals of Neurology, 1999