The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms-Reference-Cited by-同舟云学术

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

Published:2013-04-02 Issue:2 Volume:14 Page:161-166
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-013-0360-2.pdf

Reference24 articles.

1. Borghero G, Floris G, Cannas A et al (2011) A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms and FTD. Neurobiol Aging 32(12):2327.e1-5

2. Cairns NJ, Neumann M, Bigio et al (2007) TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 171:227–240

3. Chanson JB, Echaniz-Laguna A, Vogel T et al (2010) TDP43-positive intraneuronal inclusions in a patient with motor neuron disease and Parkinson's disease. Neurodegener Dis 7:260–264

4. Chiò A, Borghero G, Pugliatti M et al (2011) Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 68:594–598

5. Floris G, Cannas A, Solla P et al (2009) Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease. Parkinsonism Relat Disord 1(4):277–280

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