Associated Papers
Expression of genetic peripheral neuropathies in South African children.
Raga SV et al.
Neuromuscular Disorders : Nmd, 2026
Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
Chrysostomaki M et al.
Genes, 2026
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C et al.
Neurology. Genetics, 2025
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
Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.
Touvier T et al.
Brain : a Journal of Neurology, 2025
Generation of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene.
Zhu J et al.
Stem Cell Research, 2025
Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.
McCulloch MK et al.
International Journal of Molecular Sciences, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A et al.
Pediatric Neurology, 2024
Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.
Touvier T et al.
Biorxiv : the Preprint Server for Biology, 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
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS et al.
Brain Communications, 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
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.
Cavalcanti EBU et al.
Arquivos De Neuro-psiquiatria, 2023
Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Hertzog N et al.
Neural Regeneration Research, 2023
The Current State of Charcot-Marie-Tooth Disease Treatment.
Okamoto Y et al.
Genes, 2023
Corrigendum to "Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ" [Stem Cell Res. 35C (2019) 101407].
Xu J et al.
Stem Cell Research, 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
Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients.
Ma Y et al.
Frontiers in Genetics, 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
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.
Bai Y et al.
Molecular Neurobiology, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 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
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M et al.
European Journal of Neurology, 2021
Therapeutic Development in Charcot Marie Tooth Type 1 Disease.
Miniou P et al.
International Journal of Molecular Sciences, 2021
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.
Stavrou M et al.
International Journal of Molecular Sciences, 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
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients.
Chen B et al.
Frontiers in Neurology, 2021
Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.
Chang EH et al.
International Journal of Molecular Medicine, 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
Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.
Xu J et al.
Stem Cell Research, 2019
Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.
Bernard-Marissal N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Challenges in modelling the Charcot-Marie-Tooth neuropathies for therapy development.
Juneja M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.
Montes-Chinea NI et al.
Neurology. Genetics, 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
Analysis of neural crest cells from Charcot-Marie-Tooth disease patients demonstrates disease-relevant molecular signature.
Kitani-Morii F et al.
Neuroreport, 2017
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
Wang DS et al.
Annals of Clinical and Translational Neurology, 2017
Endoplasmic reticulum stress and the unfolded protein response in disorders of myelinating glia.
Clayton BLL et al.
Brain Research, 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