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254 results

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Page 1
ATTRv amyloidosis Italian Registry: clinical and epidemiological data.
Russo M, Obici L, Bartolomei I, Cappelli F, Luigetti M, Fenu S, Cavallaro T, Chiappini MG, Gemelli C, Pradotto LG, Manganelli F, Leonardi L, My F, Sampaolo S, Briani C, Gentile L, Stancanelli C, Di Buduo E, Pacciolla P, Salvi F, Casagrande S, Bisogni G, Calabrese D, Vanoli F, Di Iorio G, Antonini G, Santoro L, Mauro A, Grandis M, Di Girolamo M, Fabrizi GM, Pareyson D, Sabatelli M, Perfetto F, Rapezzi C, Merlini G, Mazzeo A, Vita G. Russo M, et al. Among authors: sabatelli m. Amyloid. 2020 Dec;27(4):259-265. doi: 10.1080/13506129.2020.1794807. Epub 2020 Jul 22. Amyloid. 2020. PMID: 32696671
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: sabatelli m. 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.
Retinal detachment with an unusual shape.
Luigetti M, Marangoni D, Bartoletti S, Sabatelli M, Cianfoni A. Luigetti M, et al. Among authors: sabatelli m. Intern Med. 2009;48(19):1777-8. doi: 10.2169/internalmedicine.48.2630. Epub 2009 Oct 1. Intern Med. 2009. PMID: 19797838 Free article. No abstract available.
A nationwide retrospective analysis on the effect of immune therapies in patients with chronic inflammatory demyelinating polyradiculoneuropathy.
Cocito D, Paolasso I, Antonini G, Benedetti L, Briani C, Comi C, Fazio R, Jann S, Matà S, Mazzeo A, Sabatelli M, Nobile-Orazio E; Italian Network for CIDP Register. Cocito D, et al. Among authors: sabatelli m. Eur J Neurol. 2010 Feb;17(2):289-94. doi: 10.1111/j.1468-1331.2009.02802.x. Epub 2009 Oct 23. Eur J Neurol. 2010. PMID: 19863650
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Del Grande A, Tasca G, Tonali PA, Sabatelli M. Luigetti M, et al. Among authors: sabatelli m. J Neurol Sci. 2010 Nov 15;298(1-2):114-7. doi: 10.1016/j.jns.2010.09.008. Epub 2010 Sep 25. J Neurol Sci. 2010. PMID: 20870250
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. 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.
A novel L67P SOD1 mutation in an Italian ALS patient.
del Grande A, Luigetti M, Conte A, Mancuso I, Lattante S, Marangi G, Stipa G, Zollino M, Sabatelli M. del Grande A, et al. Among authors: sabatelli m. Amyotroph Lateral Scler. 2011 Mar;12(2):150-2. doi: 10.3109/17482968.2011.551939. Epub 2011 Jan 19. Amyotroph Lateral Scler. 2011. PMID: 21247266
254 results