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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: cistaro a. 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.
A distinct MR imaging phenotype in amyotrophic lateral sclerosis: correlation between T1 magnetization transfer contrast hyperintensity along the corticospinal tract and diffusion tensor imaging analysis.
Carrara G, Carapelli C, Venturi F, Ferraris MM, Lequio L, Chiò A, Calvo A, Sirgiovanni S, Cistaro A, Valentini MC. Carrara G, et al. Among authors: cistaro a. AJNR Am J Neuroradiol. 2012 Apr;33(4):733-9. doi: 10.3174/ajnr.A2855. Epub 2011 Dec 22. AJNR Am J Neuroradiol. 2012. PMID: 22194369 Free PMC article.
Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene.
Calvo A, Moglia C, Canosa A, Cistaro A, Valentini C, Carrara G, Soldano E, Ilardi A, Bersano E, Bertuzzo D, Brunetti M, Ossola I, Restagno G, Chiò A. Calvo A, et al. Among authors: cistaro a. J Neurol. 2012 Dec;259(12):2723-5. doi: 10.1007/s00415-012-6640-1. Epub 2012 Aug 24. J Neurol. 2012. PMID: 22918453 No abstract available.
The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients.
Cistaro A, Pagani M, Montuschi A, Calvo A, Moglia C, Canosa A, Restagno G, Brunetti M, Traynor BJ, Nobili F, Carrara G, Fania P, Lopiano L, Valentini MC, Chiò A. Cistaro A, et al. Eur J Nucl Med Mol Imaging. 2014 May;41(5):844-52. doi: 10.1007/s00259-013-2667-5. Epub 2014 Jan 21. Eur J Nucl Med Mol Imaging. 2014. PMID: 24445987 Free PMC article.
A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.
Canosa A, Calvo A, Moglia C, Iazzolino B, Brunetti M, Restagno G, Cistaro A, Fania P, Carrara G, Valentini MC, Tanel R, Chiò A. Canosa A, et al. Among authors: cistaro a. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1437-9. doi: 10.1136/jnnp-2013-307552. Epub 2014 Apr 25. J Neurol Neurosurg Psychiatry. 2014. PMID: 24769475 No abstract available.
94 results