Results 71 to 80 of about 13,655 (181)

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  

Co-occurrence of Charcot-Marie-Tooth disease type 2A and multiple sclerosis: A case report

SAGE Open Medical Case Reports
The pathophysiology of genetic peripheral demyelinating and axonal neuropathies typically differs from that of central demyelinating diseases. However, case reports in the literature have demonstrated instances where these distinct disorders can manifest
Sara Habib, Nidhiben A. Anadani, Danny Samkutty   +2 more
doaj   +1 more source

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

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  

Asymmetric Cavovarus Deformity Presentation in Charcot-Marie-Tooth Disease. [PDF]

Foot Ankle Orthop
Requist MR, Peterson AC, Chrea B, Lenz AL.   +3 more
europepmc   +1 more source

Machine learning for Charcot-Marie-Tooth disease: toward predictive, personalized neuropathy care. [PDF]

Ann Med Surg (Lond)
Apa A, Naz F, Talha M, Imran SB, Shamim L.   +4 more
europepmc   +1 more source

A Rare Instance of Concordant Charcot-Marie-Tooth Disease and Familial Partial Lipodystrophy Type 2. [PDF]

Cureus
Bachir MA, Hazzard I, Bachir AS, Chima G, Chima B.   +4 more
europepmc   +1 more source

Bilateral dumbbell-shaped ganglioneuroma of the C2 roots in a patient with Charcot-Marie-Tooth disease: illustrative case. [PDF]

J Neurosurg Case Lessons
Weidenkopf TF, Fleming CH, Paruchuri SS, Chow W, Molian V, Greer JE.   +5 more
europepmc   +1 more source