Results 121 to 130 of about 30,474 (227)

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families [PDF]

, 2006
Ahmed Bouhouche, N. Birouk, H. Azzedine, Ali Benomar, G. Durosier, D. Ente, M.-P. Muriel, Merle Ruberg, I. Slassi, M. Yahyaoui, O. Dubourg, Réda Ouazzani, E. LeGuern   +12 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 patient-reported impact of Charcot-Marie-Tooth disease in the real world: the design and conduct of a digital lifestyle study (CMT&Me) [PDF]

, 2020
Florian P. Thomas, Mario Saporta, Shahram Attarian, Teresa Sevilla, Rafael Sivera Mascaró, Gian Maria Fabrizi, Filippo Genovese, Amy Gray, Simon Bull, Daniel Tanesse, Manuel Rego, Allison Moore, Courtney Hollett, Kátia Cristine Cavalcante Monteiro, X. Paoli, Samuel Llewellyn, Mark Larkin, Y. Boutalbi   +17 more
openalex   +1 more source

Decision letter for "Novel <i>SBF1</i> splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease"

, 2018

openalex   +1 more source

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K [PDF]

, 2011
Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré   +6 more
openalex   +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

A novel mutation in X-linked Charcot-Marie-Tooth (CMTX1) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)

, 2010
Chizuru Akimoto, Mitsuya Morita, Masahiko Yamamoto, Imaharu Nakano   +3 more
openalex   +2 more sources

256 Charcot-Marie-Tooth Disease as A Risk Factor for Periprosthetic Fractures in Tibiotalocalcaneal Fusion With Intramedullary Nailing [PDF]

, 2021
Ashwin Bhadresha, Kar Hao Teoh, K. Hariharan   +2 more
openalex   +1 more source

Progression of motor axon dysfunction and ectopic Nav1.8 expression in a mouse model of Charcot-Marie-Tooth disease 1B

, 2016
Mette Romer Rosberg, Susana Alvarez, Dennis Klein, Finn Cilius Nielsen, Rudolf Martini, S. Rock Levinson, Christian Krarup, Mihai Moldovan   +7 more
openalex   +2 more sources

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
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