The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.

doi:10.1007/s10048-013-0360-2

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The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.

Neurogenetics - 1 May 2013

Cannas Antonino, Borghero Giuseppe, Floris Gian Luca, Solla Paolo, Chiò Adriano, Traynor Bryan J, Calvo Andrea, Restagno Gabriella, Majounie Elisa, Costantino Emanuela, Piras Valeria, Lavra Loredana, Pani Carla, Orofino Gianni, Di Stefano Francesca, Tacconi Paolo, Mascia Marcello Mario, Muroni Antonella, Murru Maria Rita, Tranquilli Stefania, Corongiu Daniela, Rolesu Marcella, Cuccu Stefania, Marrosu Francesco, Marrosu Maria Giovanna

Abstract excerpt

Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island. We screened a cohort of 611 patients with PD (544 cases) and other forms of degenerative parkinsonism (67 cases) and 604...

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PMID: 23546887
DOI: 10.1007/s10048-013-0360-2
PMCID: PMC3661017

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TARDBP

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