Results 71 to 80 of about 30,367 (239)
Connexin32 and X-linked Charcot–Marie–Tooth Disease
Neurobiology of Disease, 1997 Mutations in the gap junction geneconnexin32(Cx32) cause the X-linked form of Charcot–Marie–Tooth disease, an inherited demyelinating neuropathy. More than 130 different mutations have been described, affecting all portions of the Cx32 protein.
Linda Jo Bone +4 more
doaj +1 more source
The causes of Charcot-Marie-Tooth disease [PDF]
, 2018 Charcot-Marie-Tooth (CMT) disease serves as the summary term for the most frequent forms of inherited peripheral neuropathies that affect motor and sensory nerves. In the last 12 years, 14 genes have been identified that cause different CMT subforms. The
Suter, U., Young, P.
core
Early Onset Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2005 The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT) in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.
J Gordon Millichap
doaj +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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Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1) [PDF]
, 2017 OBJECTIVE: To extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships. METHODS: Mutations in GJB1 cause the main X-linked form of CMTX (CMTX1).
Burns, J +16 more
core +1 more source
Magnetic Resonance in Medicine, Volume 95, Issue 2, Page 1189-1204, February 2026.Abstract Purpose Fat fraction (FF) quantification in individual muscles using quantitative MRI is of major importance for monitoring disease progression and assessing disease severity in neuromuscular diseases. Undersampling of MRI acquisitions is commonly used to reduce scanning time. The present paper introduces novel unrolled neural networks for the
Sandra Martin +6 more
wiley +1 more source
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]
, 2015 Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania +4 more
core +2 more sources
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source
Hand Involvement in Charcot-Marie-Tooth Disease 1A
Pediatric Neurology Briefs, 2008 Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
doaj +1 more source
A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease
Movement Disorders Clinical Practice, EarlyView.
Iro Boura +4 more
wiley +1 more source