Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson’s disease (PD). A founder TARDBP mutation (p.Ala382Thr) was recently identified as the ca...

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Autores principales: Quadri, Marialuisa, Cossu, Giovanni, Saddi, Valeria, Simons, Erik J., Murgia, Daniela, Melis, Maurizio, Ticca, Anna, Oostra, Ben A., Bonifati, Vincenzo
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer-Verlag 2011
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Original Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3158341/
https://ncbi.nlm.nih.gov/pubmed/21667065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-011-0288-3
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