Results 111 to 120 of about 26,653 (213)

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

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  

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  

Enfermedad de Charcot Marie Tooth en un niño Charcot-Marie-Tooth disease in a child

Medisan, 2012
Se presenta el caso clínico de un niño de 7 años de edad con enfermedad de Charcot Marie Tooth, atendido en el Servicio de Rehabilitación del Hospital Infantil Norte Docente "Dr.
Teresa Vidal Pérez, Katiuska Ragolta Mógrave, Hilda Alicia Jhones Cabrales, Pastor Perdomo Veranes, Manuel Uriarte Gómez   +4 more
doaj  

The Regentime stem cell procedure, successful treatment for a Charcot–Marie–Tooth disease case

Clinical Case Reports
Key Clinical Message This report highlights the successful treatment of a Charcot–Marie–Tooth disease case using the Regentime stem cell procedure, suggesting its potential as a promising therapeutic approach for patients suffering from this challenging ...
Nassim H. Abi Chahine, Vanessa J. Mansour, Lea I. Nemer, Cynthia F. Najjoum, Elsa A. El Asmar, Rita T. Boulos   +5 more
doaj   +1 more source

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies [PDF]

, 2017
Using linkage analysis and whole-exome sequencing, Safka Brozkova et al. reveal missense mutations in the histidyl-tRNA synthetase gene in 23 patients from four families with axonal and demyelinating neuropathies of varying severity.
Antonellis, Anthony, Baets, Jonathan, Beg, Asim A., Beth Griffin, Laurie, Chrast, Roman, De Jonghe, Peter, Deconinck, Tine, Ferbert, Andreas, Haberlova, Jana, Janecke, Andreas R., Lassuthova, Petra, Mazanec, Radim, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Rivolta, Carlo, Roth, Christian, Safka Brozkova, Dana, Seeman, Pavel, Senderek, Jan, Zavadakova, Petra, Zuchner, Stephan   +20 more
core  

Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.

Medisur, 2011
The case of a 50 years old male patient is presented. Along 14 years of clinical evolution, four limbs musculoskeletal disorders with atrophy of the thenar and hypothenar prominences and muscles of both legs had been emphasized.
Rafael Pila Pérez, Víctor Adolfo Holguín Prieto, Leandro Segura Pujol   +2 more
doaj  

Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study. [PDF]

Orphanet J Rare Dis
Pernice HF, May S, Mühlensiepen F, Spethmann S, Kneitz R, Mossakowski A, Hahn K.   +6 more
europepmc   +1 more source

Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variants. [PDF]

J Neurol Neurosurg Psychiatry
Record CJ, Grider T, Rebelo AP, Laurini C, Skorupinska M, Danzi MC, Poh R, Tomaselli PJ, Frezatti RS, Dominik N, Grosz B, Ellis M, Kumar KR, Harms MB, Weihl CC, Marques Júnior W, Claeys KG, Blake JC, Holt JK, Weber A, Jacobson R, Dineen RT, Falzone YM, Previtali SC, Menezes MP, Vucic S, Laura M, Kennerson ML, Shy ME, Zuchner S, Reilly MM.   +30 more
europepmc   +1 more source

Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution. [PDF]

Neurol Genet
Alawneh I, Alemán A, Nigro E, Bouchard M, Gonorazky HD.   +4 more
europepmc   +1 more source