Results 111 to 120 of about 29,182 (218)

Charcot‐Marie‐Tooth disease in children

Annals of the Child Neurology Society
Charcot‐Marie‐Tooth (CMT) disease represents a diverse group of inherited neuropathies with a broad spectrum of symptoms. It is the most prevalent inherited neuropathy, with an estimated prevalence ranging from 9.7 to 82 cases per 100,000 individuals ...
Ezgi Saylam, Praveen Kumar Ramani, Ruthwik Duvuru, Brett Haley, Aravindhan Veerapandiyan   +4 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  

Nuevo caso de asociación entre Charcot-Marie- Tooth y enfermedad de Scheuermann

Iatreia, 2010
La enfermedad de Charcot-Marie-Tooth (CMT) es una neuropatía hereditaria, también llamada Neuropatía motora y sensorial, se caracteriza por un desorden heterogeneo que afecta el sistema nervioso periférico resultando en una perdida lentamente progresiva ...
Taryn Castro, Sandra Ospina, Carolina Rivera, Gloria Torralvo, Heidi Mateus   +4 more
doaj  

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  

Enfermedad de Charcot- Marie- Tooth: 5 nuevos casos en el sur colombiano

Repertorio de Medicina y Cirugía
Introducción: la enfermedad de Charcot-Marie-Tooth, es la neuropatía periférica hereditaria más frecuente, con prevalencia mundial de 1:2500. Su presentación tanto clínica como genética es heterogénea.
Maria Camila Gutierrez Vargas, Henry Ostos Alfonso   +1 more
doaj   +1 more source

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

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