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317 results

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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
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: marrosu f, marrosu mg. 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
A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.
Borghero G, Floris G, Cannas A, Marrosu MG, Murru MR, Costantino E, Parish LD, Pugliatti M, Ticca A, Traynor BJ, Calvo A, Cammarosano S, Moglia C, Cistaro A, Brunetti M, Restagno G, Chiò A. Borghero G, et al. Among authors: marrosu mg. Neurobiol Aging. 2011 Dec;32(12):2327.e1-5. doi: 10.1016/j.neurobiolaging.2011.06.009. Epub 2011 Jul 30. Neurobiol Aging. 2011. PMID: 21803454 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: 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.
Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders?
Floris G, Borghero G, Cannas A, Stefano FD, Murru MR, Corongiu D, Cuccu S, Tranquilli S, Marrosu MG, Chiò A, Marrosu F. Floris G, et al. Among authors: marrosu f, marrosu mg. J Neurol. 2013 Apr;260(4):1155-7. doi: 10.1007/s00415-013-6833-2. Epub 2013 Jan 13. J Neurol. 2013. PMID: 23314407 No abstract available.
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: marrosu f, marrosu mg. 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.
317 results