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
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Ptak CP et al.
Brain : a Journal of Neurology, 2023
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Hertzog N et al.
Neural Regeneration Research, 2023
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
Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
Yonekawa T et al.
Pediatric Neurology, 2013
Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
Prada V et al.
Annals of Neurology, 2012
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
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