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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: marrosu f, marrosu mg. 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.
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: marrosu f, marrosu mg. 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.
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
Chiò A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, Sendtner M, Brunetti M, Ossola I, Calvo A, Pugliatti M, Sotgiu MA, Murru MR, Marrosu MG, Marrosu F, Marinou K, Mandrioli J, Sola P, Caponnetto C, Mancardi G, Mandich P, La Bella V, Spataro R, Conte A, Monsurrò MR, Tedeschi G, Pisano F, Bartolomei I, Salvi F, Lauria Pinter G, Simone I, Logroscino G, Gambardella A, Quattrone A, Lunetta C, Volanti P, Zollino M, Penco S, Battistini S; ITALSGEN consortium; Renton AE, Majounie E, Abramzon Y, Conforti FL, Giannini F, Corbo M, Sabatelli M. Chiò A, et al. Among authors: marrosu f, marrosu mg. Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366. Brain. 2012. PMID: 22366794 Free PMC article.
ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.
Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G; SARDINIALS Consortium. Chiò A, et al. Among authors: marrosu f, marrosu mg. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):730-3. doi: 10.1136/jnnp-2012-302219. Epub 2012 May 1. J Neurol Neurosurg Psychiatry. 2012. PMID: 22550220 Free PMC article.
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: marrosu f, marrosu mg. 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: marrosu f, marrosu mg. 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
167 results