Results 111 to 120 of about 30,474 (227)

Molecular Diagnosis of Charcot-Marie Tooth Disease

Pediatric Neurology Briefs, 2002
The frequency of mutations in certain genes in 153 unrelated patients with Charcot-Marie-Tooth disease (CMT) was determined by DNA sequencing before clinical testing at the Departments of Molecular and Human Genetics and Pediatrics, Baylor College of ...
J. Gordon Millichap
doaj   +1 more source

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
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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

The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease [PDF]

, 2017
Mutations in the mitochondrial fission factor GDAP1 are associated with severe peripheral neuropathies, but why the CNS remains unaffected is unclear. Using a Gdap1−/− mouse, Niemann et al.
Angst, Brigitte, Feltri, M. Laura, Halfter, Hartmut, Horn, Michael, Huber, Nina, Lebrun-Julien, Frédéric, Niemann, Axel, Pereira, Jorge A., Somandin, Christian, Suter, Ueli, Toyka, Klaus V., Wagner, Konstanze M., Welzl, Hans, Wessig, Carsten, Wrabetz, Lawrence, Young, Peter   +15 more
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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
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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
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Rab7 Mutants Associated with Charcot-Marie-Tooth Disease Cause Delayed Growth Factor Receptor Transport and Altered Endosomal and Nuclear Signaling [PDF]

, 2012
Soumik BasuRay, Sanchita Mukherjee, Elsa Romero, Matthew Seaman, Angela Wandinger‐Ness   +4 more
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Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease [PDF]

, 2009
Marian A. J. Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny P.A. Samijn, W. Ludo van der Pol, Farid Meggouh, Frank Baas   +7 more
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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
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Clinical and Electrophysiological Aspects of Charcot – Marie Tooth Disease- A Case Report of Two Patients

, 2020
Geetanjali Sharma
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