Diagnosis of Charcot‐Marie‐Tooth Disease [PDF]
BioMed Research International, 2009 Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission.
Banchs, Isabel +7 more
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Charcot-Marie-Tooth Disease [PDF]
, 2019 National Institute of Neurological Disorders and Stroke (NINDS)
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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
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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Rehabilitation interventions for foot drop in neuromuscular disease [PDF]
, 2007 "Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B. +3 more
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Pregnancy and delivery in patients with Charcot-Marie-Tooth disease and related disorders [PDF]
, 2023 BACKGROUND: Charcot–Marie–Tooth disease is the most common inherited peripheral neuropathy and many patients with Charcot–Marie–Tooth are women of childbearing age. Guidelines for managing pregnancy in Charcot–Marie–Tooth are lacking. AIMS: To assess the
Byrne, Bridgette +4 more
core
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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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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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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Dynamin 2 in Charcot-Marie-Tooth Disease [PDF]
, 2012 Charcot-Marie-Tooth disease (CMT) is an inherited neuronal disorder, and is induced by mutations of various genes associated with intracellular membrane traffic and cytoskeleton.
Takei, Kohji, Tanabe, Kenji
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