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An ALS case with a novel D90N-SOD1 heterozygous missense mutation.
Calvo A, Ilardi A, Moglia C, Canosa A, Carrara G, Valentini C, Ossola I, Brunetti M, Restagno G, Chiò A. Calvo A, et al. Among authors: restagno g. Amyotroph Lateral Scler. 2012 Jun;13(4):393-5. doi: 10.3109/17482968.2012.673170. Amyotroph Lateral Scler. 2012. PMID: 22632444
A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.
Canosa A, Calvo A, Moglia C, Barberis M, Brunetti M, Cammarosano S, Manera U, Ilardi A, Restagno G, Chiò A. Canosa A, et al. Among authors: restagno g. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):127-8. doi: 10.3109/21678421.2014.966312. Epub 2014 Oct 9. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25299943
The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.
Restagno G, Gomez A, Lombardo F, Cocco E, Calvo A, Ghiglione P, Mutani R, Chiò A. Restagno G, et al. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005 Mar;6(1):45-9. doi: 10.1080/14660820410021276. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005. PMID: 16036425
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.
Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Mandrioli J, Salvi F, Spataro R, Schymick J, Traynor BJ, La Bella V; ITALSGEN Consortium. Chiò A, et al. Among authors: restagno g. Neurobiol Aging. 2009 Aug;30(8):1272-5. doi: 10.1016/j.neurobiolaging.2009.05.001. Epub 2009 May 17. Neurobiol Aging. 2009. PMID: 19450904 Free PMC article.
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G; Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium. Chiò A, et al. Among authors: restagno g. Arch Neurol. 2011 May;68(5):594-8. doi: 10.1001/archneurol.2010.352. Epub 2011 Jan 10. Arch Neurol. 2011. PMID: 21220647 Free PMC article.
Genetic architecture of ALS in Sardinia.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Pliner HA, Renton AE, Nalls MA, Traynor BJ, Restagno G, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Among authors: restagno g. Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2014 Jul 18. Neurobiol Aging. 2014. PMID: 25123918 Free PMC article.
Prevalence of SOD1 mutations in the Italian ALS population.
Chiò A, Traynor BJ, Lombardo F, Fimognari M, Calvo A, Ghiglione P, Mutani R, Restagno G. Chiò A, et al. Among authors: restagno g. Neurology. 2008 Feb 12;70(7):533-7. doi: 10.1212/01.wnl.0000299187.90432.3f. Neurology. 2008. PMID: 18268245
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: restagno g. 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.
123 results