Associated Papers
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.
Laurini C et al.
Neurology. Genetics, 2025
Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.
Kavoosi S et al.
Iranian Journal of Public Health, 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
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J et al.
International Journal of Molecular Sciences, 2024
Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.
McCulloch MK et al.
International Journal of Molecular Sciences, 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
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
Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.
Hertzog N et al.
Neural Regeneration Research, 2023
Charcot-Marie-Tooth neuropathies: Current gene therapy advances and the route toward translation.
Stavrou M et al.
Journal of the Peripheral Nervous System : Jpns, 2023
Messenger RNA Translation Defects in Neurodegenerative Diseases.
Storkebaum E et al.
The New England Journal of Medicine, 2023
A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.
Veneri FA et al.
Human Molecular Genetics, 2022
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.
Bai Y et al.
Molecular Neurobiology, 2022
Raising cGMP restores proteasome function and myelination in mice with a proteotoxic neuropathy.
VerPlank JJS et al.
Brain : a Journal of Neurology, 2022
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.
Subréville M 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
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Phosphorylation of eIF2α Promotes Schwann Cell Differentiation and Myelination in CMT1B Mice with Activated UPR.
Scapin C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020
Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
Escorcio-Bezerra ML et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020
Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.
Chang EH et al.
International Journal of Molecular Medicine, 2019
Trigeminal Neuralgia and Charcot-Marie-Tooth Disease: An Intriguing Association. Lessons From a Large Family Case Report and Review of Literature.
Méreaux JL et al.
Headache, 2019
Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice.
Volpi VG et al.
Plos Genetics, 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
Sustained Expression of Negative Regulators of Myelination Protects Schwann Cells from Dysmyelination in a Charcot-Marie-Tooth 1B Mouse Model.
Florio F et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
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
Cellular Pathology of Pelizaeus-Merzbacher Disease Involving Chaperones Associated with Endoplasmic Reticulum Stress.
Inoue K
Frontiers in Molecular Biosciences, 2017
Ablation of Perk in Schwann Cells Improves Myelination in the S63del Charcot-Marie-Tooth 1B Mouse.
Sidoli M et al.
The Journal of Neuroscience : the Official Journal of the Society for 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
Update on Charcot-Marie-Tooth disease.
Gutmann L et al.
Current Opinion in Neurology, 2015
Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies.
Jerath NU et al.
Biochimica Et Biophysica Acta, 2015
Unfolded protein response, treatment and CMT1B.
Bai Y et al.
Rare Diseases (austin, Tex.), 2013
The Charcot-Marie-Tooth diseases: how can we identify and develop novel therapeutic targets?
Roberts RC
Brain : a Journal of Neurology, 2012
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice.
Patzkó A et al.
Brain : a Journal of Neurology, 2012
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
Saporta MA et al.
Brain : a Journal of Neurology, 2012
Phenotypic presentation of the Ser63Del MPZ mutation.
Miller LJ et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63.
Lin KP et al.
Clinical Neurology and Neurosurgery, 2012
Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurologica Scandinavica. Supplementum, 2012
P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.
Fratta P et al.
Human Molecular Genetics, 2011
Foot pad skin biopsy in mouse models of hereditary neuropathy.
Dacci P et al.
Glia, 2010
Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.
Braathen GJ et al.
Bmc Research Notes, 2010
MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy.
Kohl B et al.
The American Journal of Pathology, 2010
Hereditary predominantly motor neuropathies.
Pareyson D et al.
Current Opinion in Neurology, 2009
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
Mandich P et al.
European Journal of Human Genetics : Ejhg, 2009