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
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
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
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
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
Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
Bremer J et al.
Brain Pathology (zurich, Switzerland), 2024
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease.
Cao GH et al.
Frontiers in Neurology, 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
Structural bases for the Charcot-Marie-Tooth disease induced by single amino acid substitutions of myelin protein zero.
Sakakura M et al.
Structure (london, England : 1993), 2023
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.
Marriott H et al.
Bioinformatics (oxford, England), 2023
Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.
Lei L et al.
European Journal of Neurology, 2023
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA et al.
Human Molecular Genetics, 2022
A new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.
Shackleford G et al.
Plos Genetics, 2022
Thr124Met myelin protein zero mutation mimicking motor neuron disease.
Bisogni G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
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 Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C et al.
Life (basel, Switzerland), 2022
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
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M et al.
Cerebellum (london, England), 2021
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M et al.
European Journal of Neurology, 2021
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study.
Hauw F et al.
European Journal of Neurology, 2021
Loss of function MPZ mutation causes milder CMT1B neuropathy.
Howard P et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1.
Malaquias MJ et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.
Schiavon CR et al.
Frontiers in Cell and Developmental Biology, 2021
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.
Chen B et al.
Frontiers in Neurology, 2021
Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu X et al.
European Journal of Neurology, 2020
A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.
Caress JB et al.
Muscle & Nerve, 2019
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
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
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
Nadol JB et al.
Audiology & Neuro-otology, 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
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016
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
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
Stancanelli C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease.
Eltawansy SA et al.
Case Reports in Cardiology, 2015
Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation.
Tokuda N et al.
Internal Medicine (tokyo, Japan), 2015
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.
Leal A et al.
Revista De Biologia Tropical, 2014
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014