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Page 1
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: di stefano f. 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
C9ORF72 repeat expansion and bipolar disorder - is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder.
Floris G, Di Stefano F, Pisanu C, Chillotti C, Murru MR, Congiu D, Cuccu S, Ruiu E, Borghero G, Cannas A, Marrosu MG, Marrosu F, Del Zompo M, Squassina A. Floris G, et al. Among authors: di stefano f. Bipolar Disord. 2014 Sep;16(6):667-8. doi: 10.1111/bdi.12210. Epub 2014 May 5. Bipolar Disord. 2014. PMID: 24798095 No abstract available.
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: di stefano f. 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
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: di stefano f. 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.
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. 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.
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: di stefano f. 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.
Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype?
Floris G, Borghero G, Cannas A, Di Stefano F, Costantino E, Murru MR, Brunetti M, Restagno G, Traynor BJ, Marrosu MG, Chiò A, Marrosu F. Floris G, et al. Among authors: di stefano f. J Neurol. 2012 Aug;259(8):1749-51. doi: 10.1007/s00415-012-6444-3. Epub 2012 Feb 10. J Neurol. 2012. PMID: 22323211 Free PMC article. No abstract available.
136 results