Associated Papers
Computational prioritization of deleterious human myelin protein zero gene mutations reveals structural disruption and potential myelin dysfunction through dynamic simulations and stability analysis.
Alhassan HH et al.
Journal of Biomolecular Structure & Dynamics, 2025
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
Gemignani F et al.
International Journal of Molecular Sciences, 2024
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.
Comella M et al.
Case Reports in Pediatrics, 2022
Diagnostic yield of advanced genetic testing in patients with hereditary neuropathies: A retrospective single-site study.
Felice KJ et al.
Muscle & Nerve, 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
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities.
Duan X et al.
Frontiers in Aging Neuroscience, 2016
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
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
Saporta MA et al.
Experimental Neurology, 2015
A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.
Reyes-Marin K et al.
Clinical Neurology and Neurosurgery, 2011
Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
Laurà M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2007
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
Kilfoyle DH et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2006
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