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Page 1
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: galota rm. Front Neurol. 2019 Jun 13;10:619. doi: 10.3389/fneur.2019.00619. eCollection 2019. Front Neurol. 2019. PMID: 31263448 Free PMC article.
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: galota rm. Hum Mol Genet. 2019 Dec 1;28(23):3912-3920. doi: 10.1093/hmg/ddz239. Hum Mol Genet. 2019. PMID: 31600781 Free PMC article.
Genetic Counseling and NGS Screening for Recessive LGMD2A Families.
Strafella C, Caputo V, Campoli G, Galota RM, Mela J, Zampatti S, Minozzi G, Sancricca C, Servidei S, Giardina E, Cascella R. Strafella C, et al. Among authors: galota rm. High Throughput. 2020 May 10;9(2):13. doi: 10.3390/ht9020013. High Throughput. 2020. PMID: 32397577 Free PMC article.
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: galota rm. Front Neurol. 2018 Nov 28;9:1027. doi: 10.3389/fneur.2018.01027. eCollection 2018. Front Neurol. 2018. PMID: 30546343 Free PMC article.