Results 191 to 200 of about 49,167 (262)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease. [PDF]

Ann Neurol
Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez C, Expósito-Escudero J, Yubero D, Muchart J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero L, Bönnemann CG, Nascimento A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D, Palau F.   +23 more
europepmc   +1 more source

Charcot-marie-tooth syndrome.

Journal of athletic training, 2010
openaire   +1 more source

Charcot-Marie-Tooth syndrome

, 2011
openaire   +1 more source

Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models. [PDF]

Stem Cell Reports
Rizzuti M, Pagliari E, D'Agostino M, Ottoboni L, Parente V, Comi GP, Corti S, Rizzo F, Abati E.   +8 more
europepmc   +1 more source

Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death. [PDF]

J Cell Sci
Joaquim M, Bulimaga MB, Mohn MA, Plouzennec S, Osinski L, Altin S, Mahabir E, Chevrollier A, Escobar-Henriques M.   +8 more
europepmc   +1 more source

An open-label single-arm phase 1/2a study to evaluate the safety and exploratory efficacy of a VM202 in patients with Charcot-Marie-Tooth disease 1A. [PDF]

Orphanet J Rare Dis
Kwon HM, Kim HS, Chi SA, Nam SH, Kim HJ, Kim SB, Choi BO.   +6 more
europepmc   +1 more source

Correction to "Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes". [PDF]

J Peripher Nerv Syst
europepmc   +1 more source