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
Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.
Pisciotta C et al.
European Journal of Neurology, 2023
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V et al.
Annals of Neurology, 2023
Neuropathic pain in Charcot-Marie-Tooth disease: A clinical and laser-evoked potential study.
Peretti A et al.
European Journal of Pain (london, England), 2022
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.
Callegari I et al.
Journal of Neurology, 2019
PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
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
Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.
Rajabally YA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy.
Dacci P et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Nicolaou P et al.
Neuroepidemiology, 2010
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