TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation

BACKGROUND: TANK-binding kinase 1 (TBK1) gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS). METHODS: We sequenced the TBK1 gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of...

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Detalles Bibliográficos
Autores principales: Pozzi, Laura, Valenza, Fabiola, Mosca, Lorena, Dal Mas, Andrea, Domi, Teuta, Romano, Alessandro, Tarlarini, Claudia, Falzone, Yuri Matteo, Tremolizzo, Lucio, Sorarù, Gianni, Cerri, Federica, Ferraro, Pilar M, Basaia, Silvia, Agosta, Federica, Fazio, Raffaella, Comola, Mauro, Comi, Giancarlo, Ferrari, Maurizio, Quattrini, Angelo, Lunetta, Christian, Penco, Silvana, Bonanomi, Dario, Carrera, Paola, Riva, Nilo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2017
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5629935/
https://www.ncbi.nlm.nih.gov/pubmed/28822984
http://dx.doi.org/10.1136/jnnp-2017-316174

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