Stefano Regis

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Silvia Bione, Elena Maestrini, Stefano Rivella et al. · Nature Genetics · 1994 · 882 citations

Mendelian Disorder, Genetic Disorder, Natural Sciences +10

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

Barbara Tappino, Roberta Biancheri, Matthew Mort et al. · Human Mutation · 2010 · 116 citations · Full text

Molecular Diagnostic Techniques, Somatic Variant, Mendelian Disorder +14

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis

Stefano Regis, Barbara Tappino, Camillo Rosano et al. · Human Mutation · 2007 · 73 citations · Full text

TGF-β1 Downregulates the Expression of CX3CR1 by Inducing miR-27a-5p in Primary Human NK Cells

Stefano Regis, Fabio Caliendo, Alessandra Dondero et al. · Frontiers in Immunology · 2017 · 65 citations · Full text

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

Mirella Filocamo, Raffaella Mazzotti, Marina Stroppiano et al. · Human Mutation · 2002 · 54 citations · Full text

Engineering, Lysosomal Storage Disease, Genetics +18