Lupo,Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vilchez, Juan J.; Vázquez-Costa, Juan Francisco; Espinós-Armero, Carmen Ángeles; Sevilla, Teresa(BMJ, 2018-12)
[EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...
Sivera, Rafael; Sevilla, T.; Vílchez, Juan Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vázquez, Juan Francisco; Muelas, Nuria; Bataller, Luis; Millán, José María; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Ovid Technologies (Wolters Kluwer) - American Academy of Neurology, 2013-10-29)
[EN] Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area.
Methods: A ...
Sivera, Rafael; Espinós-Armero, Carmen Ángeles; Vílchez, Juan J.; Mas, Fernando; Martínez-Rubio, Dolores; Chumillas, María José; Mayordomo, Fernando; Muelas, Nuria; Bataller, Luis; Palau, Francesc; Sevilla, Teresa(Blackwell Publishing, 2010-12)
[EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations ...
Sevilla, Teresa; Jaijo, Teresa; Nauffal, Dolores; Collado, Diego; Chumillas, María José; Vilchez, Juan J.; Muelas, Nuria; Bataller, Luis; Domènech, Rosalia; Espinós-Armero, Carmen Ángeles; Palau, Francesc(Oxford University Press, 2008-11)
[EN]
Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ...