Results 101 to 110 of about 30,367 (239)

X-Linked Charcot-Marie-Tooth Disease in 93 Patients

Pediatric Neurology Briefs, 2001
The clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with X-linked dominant Charcot-Marie-Tooth (CMTX) disease are reported from the Hopital de la Salpetriere, Paris, France.
J Gordon Millichap
doaj   +1 more source

Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing [PDF]

, 2017
published_or_final_versio
Ho, C, Lee, EC, Liu, TK, Mak, SHT, Poon, WT, Tai, S, Tang, VW   +6 more
core   +2 more sources

Rehabilitation in Charcot-Marie-Tooth disease type 1

Advances in Clinical Neuroscience & Rehabilitation, 2014
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome ...
Manoj Mannil, Chandini Kadian, Elisabeth Futterlieb, Michael W Sereda   +3 more
doaj   +1 more source

The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases [PDF]

, 2014
Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) represent the most common heritable neuromuscular disorders.
Andressa Ferreira Lacerda, Andrzej Kochański, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Beata Sokołowska, Craig R. Brunetti, Dagmara Kabzińska, Elena Sinkiewicz-Darol, Irena Hausmanowa-Petrusewicz   +8 more
core   +1 more source

Neurological diagnoses in children suspected of developmental coordination disorder: DCD or not DCD, that is the question

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 154-155, February 2026.
Jill G. Zwicker
wiley   +1 more source

Diagnóstico diferencial entre “Enfermedad articular neuropática de Charcot y Enfermedad de Charcot Marie Tooth” [PDF]

, 2017
Treball Final de Grau de Podologia, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, curs: 2016-2017, Tutor: Carolina Padrós SánchezLa Neuroartropatia de Charcot y el Charcot Marie Tooth fueron descritas por Jean Marie Charcot en ...
Alberola Serna, Noemí
core  

Contralateral force irradiation for the activation of tibialis anterior muscle in carriers of Charcot-Marie-Tooth disease: effect of PNF intervention program [PDF]

, 2009
OBJETIVO: Avaliar a resposta do músculo tibial anterior (TA) após um protocolo de cinco semanas com irradiação contralateral de força através de diagonais de facilitação neuromuscular proprioceptiva (FNP) em pacientes com polineuropatia desmielinizante ...
ARAUJO, João E., FUZARO, Amanda C., HATA, Luciana, MARQUES JÚNIOR, Wilson, MENINGRONI, Paula C., NAKADA, Carolina S.   +5 more
core   +1 more source

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K [PDF]

, 2011
Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré   +6 more
openalex   +1 more source

Genetically confirmed Charcot–Marie–Tooth disease type 2A manifesting with postural tremor: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits ...
Salhadin Mohammed, Selam Kifelew, Fikru Tsehayneh, Abel Teklit Haile, Esrom Hagos Gebrehiwot   +4 more
doaj   +1 more source

Targeting myelin lipid metabolism as a potential therapeutic strategy in a model of CMT1A neuropathy

Nature Communications, 2018
Charcot–Marie–Tooth disease 1A (CMT1A) is a peripheral demyelinating disease. Here, the authors demonstrate in a rodent model of CMT1A that Schwann cells have impairments in lipid biosynthesis, and that restoring lipids via diet can reverse the ...
R. Fledrich, T. Abdelaal, L. Rasch, V. Bansal, V. Schütza, B. Brügger, C. Lüchtenborg, T. Prukop, J. Stenzel, R. U. Rahman, D. Hermes, D. Ewers, W. Möbius, T. Ruhwedel, I. Katona, J. Weis, D. Klein, R. Martini, W. Brück, W. C. Müller, S. Bonn, I. Bechmann, K. A. Nave, R. M. Stassart, M. W. Sereda   +24 more
doaj   +1 more source