Results 11 to 20 of about 13,655 (181)
Treatment for Charcot-Marie-Tooth disease [PDF]
Cochrane Database of Systematic Reviews, 2006 Charcot-Marie-Tooth disease (CMT) comprises a large variety of different forms of motor and sensory neuropathies. The most frequent are demyelinating forms (CMT1) and axonal forms (CMT2). The molecular basis of several CMT forms has been clarified during the last 15 years.
Young, P. +3 more
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Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
Hereditas, 2023 Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern.
Chenyu Wang +6 more
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A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients. [PDF]
PLoS ONE, 2017 The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A).
Wenjia Wang +11 more
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GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
Case Reports in Neurology, 2021 X-linked Charcot-Marie-Tooth (CMT) disease type I (CMTX1) is the second most frequent type of CMT disease caused by pathogenic variants in the GJB1 gene.
Sabine Kovale +7 more
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The causes of Charcot-Marie-Tooth disease [PDF]
Cellular and Molecular Life Sciences (CMLS), 2003 ISSN:1420 ...
Young, P., Suter, U.
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Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (
BMC Medical Genetics, 2006 Background Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.
Haas Gerhard +6 more
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Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants
Case Reports in Medicine, 2022 This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical ...
Nivedita U. Jerath
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Intermediate Charcot-Marie-Tooth disease [PDF]
Neuroscience Bulletin, 2014 Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very slow motor nerve conduction velocity (MNCV) (45 m/s).
Lei, Liu, Ruxu, Zhang
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Communications Biology, 2022 GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.
Christina Wolf +22 more
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X-linked Charcot-Marie-Tooth Disease [PDF]
Journal of the Peripheral Nervous System, 2005 AbstractThe X‐linked form of Charcot‐Marie‐Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
Scherer, Steven S., Kleopa, Kleopas A.
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