Associated Papers
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.
Bertini A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2024
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V et al.
Annals of Neurology, 2023
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
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study.
Fabrizi GM et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2018
A rare association between multiple sclerosis and Charcot-Marie-Tooth type 1B.
Cortese R et al.
Brain and Behavior, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 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
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
Taioli F et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy.
Marchini C et al.
Neuromuscular Disorders : Nmd, 2009
Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype.
Steck AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2006
Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
Houlden H et al.
Neuromolecular Medicine, 2006
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
Szigeti K et al.
Annals of Neurology, 2003
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Leal A et al.
Neurogenetics, 2003
Heterozygous Null Mutation in the P0 Gene Associated with Mild Charcot-Marie-Tooth Disease.
Pareyson D et al.
Annals of the New York Academy of Sciences, 1999
Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease.
Pareyson D et al.
Annals of the New York Academy of Sciences, 1999