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
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
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
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
Understanding medication safety and Charcot-Marie-Tooth disease: a patient perspective
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DOI: 10.1007/s11096-020-01123-z
Abstract: Background Charcot-Marie-Tooth disease is a common inherited neuropathy where patients may be sensitive to adverse effects of certain medicines; however, information about medication safety in this group of people is limited. Objective This study aimed… read more here.
Keywords: safety; charcot marie; medication; marie tooth ... See more keywords
Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A)
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2017.02.004
Abstract: BACKGROUND Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in… read more here.
Keywords: marie tooth; charcot marie; tooth disease; disease cmt ... See more keywords
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.04.003
Abstract: Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have… read more here.
Keywords: analysis; disease; charcot marie; marie tooth ... See more keywords
Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot–Marie–Tooth disease type 2K
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.04.001
Abstract: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese… read more here.
Keywords: disease; charcot marie; autosomal recessive; chinese patients ... See more keywords
Body composition and its association with physical performance, quality of life, and clinical indicators in Charcot-Marie-Tooth disease: a pilot study
Sign Up to like & getrecommendations! Published in 2019 at "Disability and Rehabilitation"
DOI: 10.1080/09638288.2017.1395083
Abstract: Abstract Aim: To investigate whether the amount and distribution of lean body mass and fat mass is associated with disease severity in adults with Charcot-Marie Tooth. Methods: Ten participants (age 46 ± 13 y, height 1.7 ± 0.1 m, and body… read more here.
Keywords: mass; charcot marie; marie tooth; tooth disease ... See more keywords
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale
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DOI: 10.1093/brain/awy280
Abstract: Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and… read more here.
Keywords: validation; disease; charcot marie; marie tooth ... See more keywords
Patient-Reported Symptom Burden of Charcot–Marie–Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000426
Abstract: Abstract Objectives: This study aims to explore the impact of Charcot–Marie–Tooth disease type 1A (CMT1A) and its treatment on patients in European (France, Germany, Italy, Spain, and the United Kingdom) and US real-world practice. Methods:… read more here.
Keywords: charcot marie; patient reported; disease; tooth disease ... See more keywords
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Neurology"
DOI: 10.1111/ene.15001
Abstract: MORC2 mutations have been described as a rare cause of axonal Charcot–Marie–Tooth disease (CMT2Z). The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to provide a comprehensive… read more here.
Keywords: marie tooth; morc2 mutations; charcot marie; tooth disease ... See more keywords