Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations

BACKGROUND: TAR DNA-binding protein 43, encoded by the TARDBP gene, has been identified as the major pathological protein of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the TARDBP gene have been detected in 2%...

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Autors principals: Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Restagno, Gabriella, Ossola, Irene, Brunetti, Maura, Montuschi, Anna, Cistaro, Angelina, Ticca, Anna, Traynor, Bryan J., Schymick, Jennifer C., Mutani, Roberto, Marrosu, Maria Giovanna, Murru, Maria Rita, Borghero, Giuseppe
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3535689/
https://ncbi.nlm.nih.gov/pubmed/20697052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2010.173
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