Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
نویسندگان
چکیده
Oriol Dols-Icardo, Irene Nebot, Ana Gorostidi, Sara Ortega-Cubero, Isabel Hernández, Ricard Rojas-García, Alberto García-Redondo, Monica Povedano, Albert Lladó , Victoria Á lvarez, Pascual Sánchez-Juan, Julio Pardo, Ivonne Jericó , Juan Vázquez-Costa, Teresa Sevilla, Fernando Cardona, Begoña Indakoechea, Fermín Moreno, Roberto Fernández-Torrón, Laia Muñoz-Llahuna, Sonia Moreno-Grau, Maiteé Rosende-Roca, Álvaro Vela, José Luís Muñoz-Blanco, Onofre Combarros, Eliecer Coto, Daniel Alcolea, Juan Fortea, Alberto Lleó , Raquel Sánchez-Valle, Jesús Esteban-Pérez, Agustín Ruiz, Pau Pastor, Adolfo López De Munain, Jordi Pérez-Tur, and Jordi Clarimón, On behalf of the Dementia Genetics Spanish Consortium (DEGESCO)
منابع مشابه
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
Although multiple CHCHD10 mutations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) diseases, neither the normal function of endogenous CHCHD10 nor its role in the pathological milieu (that is, TDP-43 pathology) of FTD/ALS have been investigated. In this study, we made a series of observations utilizing Caenorhabditis ele...
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عنوان ژورنال:
- Brain : a journal of neurology
دوره 138 Pt 12 شماره
صفحات -
تاریخ انتشار 2015