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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Detalhes bibliográficos
Publicado no:J Neurol Neurosurg Psychiatry
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Neurogenetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5629935/
https://ncbi.nlm.nih.gov/pubmed/28822984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2017-316174
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