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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Article
Mynediad Ar-lein: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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