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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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書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2010
主題:
オンライン・アクセス: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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