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
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V et al.
Annals of Neurology, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.
Bai Y et al.
Annals of Clinical and Translational Neurology, 2018
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF et al.
Journal of Neurochemistry, 2017
Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B).
Son D et al.
Stem Cell Research, 2017
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
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
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
Murphy SM et al.
Neuromuscular Disorders : Nmd, 2011
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Scherrer C et al.
Journal of Tissue Engineering, 0
Select a paper to view details