Results 111 to 120 of about 30,318 (229)

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease [PDF]

, 2018
We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT,
Berger, Philipp, Niemann, Axel, Suter, Ueli   +2 more
core  

Rehabilitation issues in Charcot-Marie-Tooth disease

Journal of Pediatric Rehabilitation Medicine, 2016
Charcot Marie Tooth (CMT) disease is the most common hereditary sensorimotor neuropathy that has a slow onset. It presents usually in childhood, starting distally and from the lower limbs progressing to more proximal muscles.
Ozge Kenis-Coskun, Dennis J. Matthews
doaj   +1 more source

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease

Case Reports in Cardiology, 2015
We report a case of a 53-year-old female presenting with a new-onset heart failure that was contributed secondary to noncompaction cardiomyopathy. The diagnosis was made by echocardiogram and confirmed by cardiac MRI.
Sherif Ali Eltawansy, Andrea Bakos, John Checton   +2 more
doaj   +1 more source

Enfermedad de Charcot-Marie-Tooth en Pediatría. Eficacia del tratamiento físico [PDF]

, 2019
Fundamento: La enfermedad de Charcot-Marie-Tooth o neuropatía hereditaria sensitivo-motora, es la neuropatía hereditaria primaria más frecuente, con una prevalencia de 1 por cada 2500 habitantes. La determinan mutaciones específicas de uno o varios genes
Olasagasti Burgaña, Maialen
core  

Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy

Nature Communications, 2018
Mutations in glycyl-tRNA synthetase (GlyRS) cause Charcot-Marie-Tooth disease, a neuromuscular disorder characterized by axonal degeneration. Here the authors show that mutant GlyRS interacts with histone deacetylase 6, resulting in increased ...
Zhongying Mo, Xiaobei Zhao, Huaqing Liu, Qinghua Hu, Xu-Qiao Chen, Jessica Pham, Na Wei, Ze Liu, Jiadong Zhou, Robert W. Burgess, Samuel L. Pfaff, C. Thomas Caskey, Chengbiao Wu, Ge Bai, Xiang-Lei Yang   +14 more
doaj   +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

Prolonged Duration of Peripheral Nerve Blockade in a Pediatric Patient with Charcot Marie Tooth Disease: A Case Report

Local and Regional Anesthesia
Natalie R Barnett,1 Amanda M Bunnell,1 Matthew A Dow2 1Department of Anesthesiology and Perioperative Medicine, Medical University of South Carolina, Charleston, SC, USA; 2Department of Orthopaedics and Physical Medicine, Medical University of South ...
Barnett NR, Bunnell AM, Dow MA
doaj  

Clinical and Electrophysiological Aspects of Charcot – Marie Tooth Disease- A Case Report of Two Patients

, 2020
Geetanjali Sharma
openalex   +1 more source

GDAP1-related autosomal dominant Charcot-Marie-Tooth disease : phenotypical and MRI features [PDF]

, 2012
El present estudi es basa en la descripció de quatre famílies portadores d'una mateixa mutació puntual (p.R120W) en el gen GDAP1 que segreguen d'una manera autosòmica dominant.
Sevilla Mantecón, Maria Teresa, Sivera Mascaró, Rafael, Universitat Autònoma de Barcelona. Departament de Medicina, Universitat Autònoma de Barcelona. Facultat de Medicina, Álvarez Sabin, Jose   +4 more
core  

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing [PDF]

, 2014
Helle Høyer, Geir J. Braathen, Øyvind L. Busk, Øystein L. Holla, Marit Svendsen, Hilde Tveitan Hilmarsen, Linda M. Strand, Camilla Furu Skjelbred, Michael Bjørn Russell   +8 more
openalex   +1 more source