Research Trends and Insights of Charcot-Marie-Tooth Disease (CMT): A Visualization Analysis (2000-2025). [PDF]
Health Sci RepABSTRACT Background and Aims The Charcot–Marie–Tooth disease (CMT) comprises genetically diverse motor and sensory neuropathies. This study aims to conduct a comprehensive investigation into the current academic and clinical status of CMT, thereby providing researchers with an extensive understanding of the research landscape and analysis of prevailing
Cao L, Liu Y, Li J, Xia X, Zhao G.
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Human Peripheral Myelin Protein 2 and Charcot-Marie-Tooth Disease or Structural Missense Variants Show Different Binding to Myelin-Like Lipid Monolayers. [PDF]
ChembiochemWe compare the membrane affinity of the P2 myelin protein and its Charcot–Marie–Tooth disease variants on a myelin‐like lipid monolayer. Epifluorescence microscopy reveals different two‐dimensional (2D) clustering and pressure‐dependent binding. Single‐point mutations in the P2 β‐barrel and α‐helix affect affinity.
Schöffmann FA +7 more
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Iranian Journal of Public Health, 2020 The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI +4 more
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Comparison of the effect of existential therapy and acceptance and commitment therapy on death anxiety, peak experiences and mental health of patients with charcot marie tooth [PDF]
مجله علوم روانشناختی, 2023 Background: Charcot Marie Tooth (CMT) is a genetic disease in which peripheral nerves are damaged, also known as hereditary sensory and motor neuropathy.
seyedeh asghar faghani tolon +2 more
doaj
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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What's the Function of Connexin 32 in the Peripheral Nervous System? [PDF]
, 2018 Connexin 32 (Cx32) is a fundamental protein in the peripheral nervous system (PNS) as its mutations cause the X-linked form of Charcot-Marie-Tooth disease (CMT1X), the second most common form of hereditary motor and sensory neuropathy and a demyelinating
Bortolozzi, Mario
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Nerve damage induced skeletal muscle atrophy is associated with increased accumulation of intramuscular glucose and polyol pathway intermediates [PDF]
, 2020 Perturbations in skeletal muscle metabolism have been reported for a variety of neuromuscular diseases. However, the role of metabolism after constriction injury to a nerve and the associated muscle atrophy is unclear.
Afzal, Shoaib +3 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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MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study [PDF]
, 2015 BACKGROUND: A substantial impediment to progress in trials of new therapies in neuromuscular disorders is the absence of responsive outcome measures that correlate with patient functional deficits and are sensitive to early disease processes ...
Fischmann, A +7 more
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Pathological classification of equine recurrent laryngeal neuropathy [PDF]
, 2018 Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle ...
Draper, A C E, Piercy, R J
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