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Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.
Ruotolo G, D'Anzi A, Casamassa A, Mazzoni M, Ferrari D, Lombardi I, Carletti RM, D'Asdia C, Torrente I, Frezza K, Lattante S, Sabatelli M, Pennuto M, Vescovi AL, Rosati J. Ruotolo G, et al. Among authors: lattante s. Stem Cell Res. 2024 Jun;77:103412. doi: 10.1016/j.scr.2024.103412. Epub 2024 Apr 10. Stem Cell Res. 2024. PMID: 38613988 Free 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: lattante s. 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
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. Brain. 2012 Mar;135(Pt 3):784-93. doi: 10.1093/brain/awr366. Brain. 2012. PMID: 22366794 Free PMC article.
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
Sabatelli M, Conforti FL, Zollino M, Mora G, Monsurrò MR, Volanti P, Marinou K, Salvi F, Corbo M, Giannini F, Battistini S, Penco S, Lunetta C, Quattrone A, Gambardella A, Logroscino G, Simone I, Bartolomei I, Pisano F, Tedeschi G, Conte A, Spataro R, La Bella V, Caponnetto C, Mancardi G, Mandich P, Sola P, Mandrioli J, Renton AE, Majounie E, Abramzon Y, Marrosu F, Marrosu MG, Murru MR, Sotgiu MA, Pugliatti M, Rodolico C; ITALSGEN Consortium; Moglia C, Calvo A, Ossola I, Brunetti M, Traynor BJ, Borghero G, Restagno G, Chiò A. Sabatelli M, et al. Neurobiol Aging. 2012 Aug;33(8):1848.e15-20. doi: 10.1016/j.neurobiolaging.2012.02.011. Epub 2012 Mar 13. Neurobiol Aging. 2012. PMID: 22418734 Free PMC article.
84 results