Results 121 to 130 of about 30,367 (239)

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  

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

, 2020
Geetanjali Sharma
openalex   +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  

KIAA1840 mutations cause ARCMT2 [PDF]

, 2020
Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes.
Barsottini, Orlando G. P., Caltagirone, Carlo, Casella, Antonella, Gaudiello, Fabrizio, Giudice, Temistocle Lo, Kawarai, Toshitaka, Massa, Roberto, Mearini, Marzia, Montecchiani, Celeste, Orlacchio, Antonio, Pedace, Lucia, Pedroso, José L., St George-Hyslop, Peter H., Terracciano, Chiara   +13 more
core  

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease [PDF]

, 2015
Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes.
50614137, 530, Barsottini, Orlando G. P., Caltagirone, Carlo, Casella, Antonella, Gaudiello, Fabrizio, Giudice, Temistocle Lo, Kawarai, Toshitaka, Massa, Roberto, Mearini, Marzia, Montecchiani, Celeste, Orlacchio, Antonio, Pedace, Lucia, Pedroso, José L., St George-Hyslop, Peter H., Terracciano, Chiara, カワライ, トシタカ, 瓦井, 俊孝   +17 more
core  

Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease [PDF]

, 2023
Sukhmanjit Kaur, Xinyue Zhang, Sugandha Patel, Yssa Rodriguez, Kylie J. Luther, Ghufran Alghafli, Ryan M. Lang, Charles K. Abrams, Rick T. Dobrowsky   +8 more
openalex   +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 topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C [PDF]

, 2016
Anita Ho, Jane L. Wagstaff, Paul T. Manna, Lena Wartosch, Seema Qamar, Elspeth F. Garman, Stefan M.V. Freund, Rhys Roberts   +7 more
openalex   +1 more source

Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2 [PDF]

, 2017
Charcot-Marie-Tooth (CMT) disease denotes a large group of genetically heterogeneous hereditary motor and sensory neuropathies and ranks among the most common inherited neurological disorders.
Berger, Philipp, Boentert, Matthias, Bonneick, Sonja, Suter, Ueli, Tersar, Kristian, Toyka, Klaus V., Wessig, Carsten, Young, Peter   +7 more
core  

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
openalex   +1 more source