Results 121 to 130 of about 30,318 (229)

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  

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

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

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

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

Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease [PDF]

, 2009
Marian A. J. Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny P.A. Samijn, W. Ludo van der Pol, Farid Meggouh, Frank Baas   +7 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

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  

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