Variation in SIPA1L2 is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Neurology"
DOI: 10.1002/ana.25426
Abstract: Genetic modifiers in rare disease have long been suspected to contribute to the considerable variance in disease expression, including Charcot–Marie–Tooth disease type 1A (CMT1A). To address this question, the Inherited Neuropathy Consortium collected a large… read more here.
Keywords: disease; charcot marie; marie tooth; tooth disease ... See more keywords
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26518
Abstract: The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited… read more here.
Keywords: charcot marie; disease; progression charcot; disease progression ... See more keywords
Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Brain and Behavior"
DOI: 10.1002/brb3.2744
Abstract: Charcot–Marie‐Tooth (CMT) disease is one of the most common hereditary neuropathies. Identifying causative mutations in CMT is essential as it provides important information for genetic diagnosis and counseling. However, genetic information of Vietnamese patients diagnosed… read more here.
Keywords: vietnamese patients; charcot marie; disease; patients diagnosed ... See more keywords
Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot‐Marie‐Tooth 1A
Sign Up to like & getrecommendations! Published in 2022 at "Glia"
DOI: 10.1002/glia.24158
Abstract: We have previously shown that targeting endoneurial macrophages with the orally applied CSF‐1 receptor specific kinase (c‐FMS) inhibitor PLX5622 from the age of 3 months onwards led to a substantial alleviation of the neuropathy in mouse… read more here.
Keywords: charcot marie; cmt1a; model; endoneurial macrophages ... See more keywords
ATP1A1 mutations cause intermediate Charcot‐Marie‐Tooth disease
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23886
Abstract: Intermediate Charcot‐Marie‐Tooth (CMT) disease is a heterogeneous group of inherited neuropathies characterized by progressive muscle weakness and atrophy of the distal extremities, distal sensory loss. There were still a large proportion of causative genes for… read more here.
Keywords: marie tooth; intermediate charcot; charcot marie; disease ... See more keywords
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24445
Abstract: MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system… read more here.
Keywords: charcot marie; morc2 gene; motor neuropathy; marie tooth ... See more keywords
Phenotypic heterogeneity in patients with NEFL‐related Charcot–Marie–Tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1870
Abstract: Charcot–Marie–Tooth disease (CMT) is the most common hereditary peripheral neuropathy. Mutations in the neurofilament light polypeptide (NEFL) gene produce diverse clinical phenotypes, including demyelinating (CMT1F), axonal (CMT2E), and intermediate (CMTDIG) neuropathies. From 2005 to 2020,… read more here.
Keywords: charcot marie; tooth disease; nefl related; cmt ... See more keywords
MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease
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DOI: 10.1002/mgg3.1890
Abstract: Charcot–Marie–Tooth disease (CMT) is a hereditary monogenic peripheral nerve disease. Variants in the gene encoding myelin protein zero (MPZ) lead to CMT, and different variants have different clinical phenotypes. A variant site, namely, c.389A >… read more here.
Keywords: charcot marie; disease; tooth disease; variant site ... See more keywords
A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2108
Abstract: Charcot–Marie–Tooth (CMT) disease is the most frequent hereditary motor sensory neurological disease. GJB1 gene is the second most frequent cause of CMT, accounting for approximately 10% of CMT cases worldwide. We identified a large Han… read more here.
Keywords: novel splicing; charcot marie; disease; marie tooth ... See more keywords
Schwann Cell and the Pathogenesis of Charcot-Marie-Tooth Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-32-9636-7_19
Abstract: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy and genetically heterogeneous. CMT1 and CMTX are autosomal dominant and X-linked demyelinating neuropathies, respectively. CMT1A, CMT1B, and CMTX1 are the common forms of CMT, which are… read more here.
Keywords: marie tooth; charcot marie; disease; schwann cell ... See more keywords
Characterization of Charcot–Marie–Tooth optic neuropathy
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DOI: 10.1007/s00415-017-8645-2
Abstract: Varying degrees of optic neuropathy can be seen in patients with Charcot–Marie–Tooth (CMT) disease. To define and characterize the extent of optic neuropathy in patients with CMT2A and CMT1A, two patients from both sub-classifications were… read more here.
Keywords: cmt1a; patients cmt2a; charcot marie; optic neuropathy ... See more keywords