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Page 1
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Strafella C, Caputo V, Galota RM, Campoli G, Bax C, Colantoni L, Minozzi G, Orsini C, Politano L, Tasca G, Novelli G, Ricci E, Giardina E, Cascella R. Strafella C, et al. Among authors: caputo v. Hum Mol Genet. 2019 Dec 1;28(23):3912-3920. doi: 10.1093/hmg/ddz239. Hum Mol Genet. 2019. PMID: 31600781 Free PMC article.
Towards the application of precision medicine in Age-Related Macular Degeneration.
Cascella R, Strafella C, Caputo V, Errichiello V, Zampatti S, Milano F, Potenza S, Mauriello S, Novelli G, Ricci F, Cusumano A, Giardina E. Cascella R, et al. Among authors: caputo v. Prog Retin Eye Res. 2018 Mar;63:132-146. doi: 10.1016/j.preteyeres.2017.11.004. Epub 2017 Nov 29. Prog Retin Eye Res. 2018. PMID: 29197628 Review.
Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants.
Cascella R, Strafella C, Longo G, Ragazzo M, Manzo L, De Felici C, Errichiello V, Caputo V, Viola F, Eandi CM, Staurenghi G, Cusumano A, Mauriello S, Marsella LT, Ciccacci C, Borgiani P, Sangiuolo F, Novelli G, Ricci F, Giardina E. Cascella R, et al. Among authors: caputo v. Oncotarget. 2017 Dec 12;9(8):7812-7821. doi: 10.18632/oncotarget.23241. eCollection 2018 Jan 30. Oncotarget. 2017. PMID: 29487693 Free PMC article.
Application of Precision Medicine in Neurodegenerative Diseases.
Strafella C, Caputo V, Galota MR, Zampatti S, Marella G, Mauriello S, Cascella R, Giardina E. Strafella C, et al. Among authors: caputo v. Front Neurol. 2018 Aug 23;9:701. doi: 10.3389/fneur.2018.00701. eCollection 2018. Front Neurol. 2018. PMID: 30190701 Free PMC article. Review.
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.
Cascella R, Strafella C, Caputo V, Galota RM, Errichiello V, Scutifero M, Petillo R, Marella GL, Arcangeli M, Colantoni L, Zampatti S, Ricci E, Deidda G, Politano L, Giardina E. Cascella R, et al. Among authors: caputo v. Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018. Front Neurol. 2018. PMID: 30546343 Free PMC article.
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E. Strafella C, et al. Among authors: caputo v. Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019. Front Neurol. 2019. PMID: 31263448 Free PMC article.
350 results