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NOTCH3 gene mutations in subjects clinically suspected of CADASIL.
Mosca L, Marazzi R, Ciccone A, Santilli I, Bersano A, Sansone V, Grosso E, Mandrile G, Giachino DF, Adobbati L, Corengia E, Agostoni E, Fiumani A, Gallone S, Scarpini E, Guidotti M, Sterzi R, Ajmone C, Marocchi A, Penco S. Mosca L, et al. J Neurol Sci. 2011 Aug 15;307(1-2):144-8. doi: 10.1016/j.jns.2011.04.019. Epub 2011 May 26. J Neurol Sci. 2011. PMID: 21616505 Free article.
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.
Mosca L, Lunetta C, Tarlarini C, Avemaria F, Maestri E, Melazzini M, Corbo M, Penco S. Mosca L, et al. Neurobiol Aging. 2012 Aug;33(8):1846.e1-4. doi: 10.1016/j.neurobiolaging.2012.01.108. Epub 2012 Mar 6. Neurobiol Aging. 2012. PMID: 22398199
Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.
Moccia M, Mosca L, Erro R, Cervasio M, Allocca R, Vitale C, Leonardi A, Caranci F, Del Basso-De Caro ML, Barone P, Penco S. Moccia M, et al. Among authors: mosca l. Neurobiol Aging. 2015 Jan;36(1):547.e5-11. doi: 10.1016/j.neurobiolaging.2014.08.021. Epub 2014 Aug 27. Neurobiol Aging. 2015. PMID: 25260852
630 results