A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms and FTD

We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of ALS cases on the Mediterranean island of Sardinia (Chiò et al, 2011). In that report, we identified 53 years-old man carrying a homozygous A382T missense mutation of t...

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Detalhes bibliográficos
Main Authors: Borghero, Giuseppe, Floris, Gianluca, Cannas, Antonino, Marrosu, Maria G., Murru, Maria R., Costantino, Emanuela, Parish, Leslie D., Pugliatti, Maura, Ticca, Anna, Traynor, Bryan J., Calvo, Andrea, Cammarosano, Stefania, Moglia, Cristina, Cistaro, Angelina, Brunetti, Maura, Restagno, Gabriella, Chiò, Adriano
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3192246/
https://ncbi.nlm.nih.gov/pubmed/21803454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2011.06.009
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