Results 71 to 80 of about 47,101 (300)
A family with Charcot-Marie-Tooth disease (type 1): evaluating diagnostic role of nerve conduction studies [PDF]
, 2017 We aimed to report a case history of a family with Charcot-Marie-Tooth disease and to assess the role of nerve conduction studies in the diagnosis. A 10-year-old girl presented with difficulty in walking with a history of delayed motor milestones and ...
Gupta, Gaurav +3 more
core +1 more source
Charcot-Marie-Tooth Disease Type 1A: Axonal Lesions
Pediatric Neurology Briefs, 2000 The clinical and electrophysiological phenotype in 42 patients with Charcot-Marie-Tooth disease type 1A (CMT1A) were analysed at Wayne State University, Detroit, MI.
J Gordon Millichap
doaj +1 more source
Phase diagram of epidemic spreading - unimodal vs. bimodal probability distributions [PDF]
, 2009 The disease spreading on complex networks is studied in SIR model. Simulations on empirical complex networks reveal two specific regimes of disease spreading: local containment and epidemic outbreak. The variables measuring the extent of disease spreading are in general characterized by a bimodal probability distribution.
arxiv +1 more source
Pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease in a Chinese pedigree
Chinese Journal of Contemporary Neurology and Neurosurgery, 2010 Objective To analyse the location of pathogenic genes of autosomal dominant Charcot⁃Marie⁃Tooth disease (CMT, peroneal atrophy) in a Chinese pedigree.
Shun⁃chang SUN +4 more
doaj
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]
, 2018 Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J. +10 more
core +3 more sources
Hypoglossal Nerve Stimulation for Obstructive Sleep Apnea and Comorbid Neuromuscular Disorders
The Laryngoscope, EarlyView.Hypoglossal nerve stimulation (HGNS) is an effective surgical treatment for many patients with moderate‐to‐severe obstructive sleep apnea (OSA) who are unable to tolerate continuous positive airway pressure. Patients with neuromuscular disorders (NMD) are particularly vulnerable to more complex sleep‐related breathing disorders due to respiratory ...
Alison Y. Choi +3 more
wiley +1 more source
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations [PDF]
, 2007 Mfn2, an oligomeric mitochondrial protein important for mitochondrial fusion, is mutated in Charcot-Marie-Tooth disease (CMT) type 2A, a peripheral neuropathy characterized by axonal degeneration.
Chan, David C., Detmer, Scott A.
core +2 more sources
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
openaire +3 more sources
Movement Disorders Clinical Practice, EarlyView.Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi +7 more
wiley +1 more source
Charcot–Marie–Tooth disease: Genetics, epidemiology and complications [PDF]
, 2017 Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms.
Ahmadinejad, Fereshteh. +3 more
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