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Page 1
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
Cannas A, Solla P, Borghero G, Floris GL, Chio A, Mascia MM, Modugno N, Muroni A, Orofino G, Di Stefano F, Calvo A, Moglia C, Restagno G, Meloni M, Farris R, Ciaccio D, Puddu R, Vacca MI, Melis R, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu MG, Marrosu F. Cannas A, et al. Among authors: tranquilli s. J Neurol. 2015 Nov;262(11):2498-503. doi: 10.1007/s00415-015-7873-6. Epub 2015 Aug 15. J Neurol. 2015. PMID: 26275564 Free article.
Genetic analysis for five LRRK2 mutations in a Sardinian parkinsonian population: importance of G2019S and R1441C mutations in sporadic Parkinson's disease patients.
Floris G, Cannas A, Solla P, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Sardu C, Marrosu F, Marrosu MG. Floris G, et al. Among authors: tranquilli s. Parkinsonism Relat Disord. 2009 May;15(4):277-80. doi: 10.1016/j.parkreldis.2008.06.009. Epub 2008 Sep 20. Parkinsonism Relat Disord. 2009. PMID: 18805725
The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.
Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, Calvo A, Restagno G, Majounie E, Costantino E, Piras V, Lavra L, Pani C, Orofino G, Di Stefano F, Tacconi P, Mascia MM, Muroni A, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu F, Marrosu MG. Cannas A, et al. Among authors: tranquilli s. Neurogenetics. 2013 May;14(2):161-6. doi: 10.1007/s10048-013-0360-2. Epub 2013 Apr 2. Neurogenetics. 2013. PMID: 23546887 Free PMC article.
Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.
Floris G, Borghero G, Cannas A, Di Stefano F, Ruiu E, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Sardu C, Marrosu MG, Chiò A, Marrosu F. Floris G, et al. Among authors: tranquilli s. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):8-15. doi: 10.3109/21678421.2014.959450. Epub 2014 Oct 6. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25285776
Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
Floris G, Borghero G, Di Stefano F, Melis R, Puddu R, Fadda L, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Cannas A, Marrosu MG, Chiò A, Marrosu F. Floris G, et al. Among authors: tranquilli s. Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):245-8. doi: 10.3109/21678421.2015.1111904. Epub 2015 Nov 17. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26575405
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
Progressive apraxia of speech in a patient with a C9orf72 mutation.
Di Stefano F, Melis M, Cannas A, Borghero G, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Marrosu MG, Marrosu F, Floris G. Di Stefano F, et al. Among authors: tranquilli s. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct-Nov;17(7-8):608-609. doi: 10.1080/21678421.2016.1183680. Epub 2016 May 11. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 27166164 No abstract available.
44 results