| Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy S Bione, E Maestrini, S Rivella, M Mancini, S Regis, G Romeo, D Toniolo Nature genetics 8 (4), 323-327, 1994 | 1084 | 1994 |
| Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ... Human mutation 31 (12), E1894-E1914, 2010 | 128 | 2010 |
| Molecular mechanisms directing migration and retention of natural killer cells in human tissues R Castriconi, P Carrega, A Dondero, F Bellora, B Casu, S Regis, ... Frontiers in immunology 9, 2324, 2018 | 111 | 2018 |
| Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis M Donnarumma, S Regis, B Tappino, C Rosano, S Assereto, F Corsolini, ... Human mutation 28 (5), 524-524, 2007 | 77 | 2007 |
| NK cell function regulation by TGF-β-induced epigenetic mechanisms S Regis, A Dondero, F Caliendo, C Bottino, R Castriconi Frontiers in Immunology 11, 497915, 2020 | 70 | 2020 |
| Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients M Filocamo, R Mazzotti, M Stroppiano, M Seri, F Giona, G Parenti, ... Human mutation 20 (3), 234-235, 2002 | 66 | 2002 |
| TGF-β1 downregulates the expression of CX3CR1 by inducing miR-27a-5p in primary human NK cells S Regis, F Caliendo, A Dondero, B Casu, F Romano, F Loiacono, ... Frontiers in Immunology 8, 264860, 2017 | 59 | 2017 |
| Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts M Aureli, R Bassi, N Loberto, S Regis, A Prinetti, V Chigorno, JM Aerts, ... Journal of inherited metabolic disease 35, 1081-1091, 2012 | 58 | 2012 |
| Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations S Grossi, S Regis, R Biancheri, M Mort, S Lualdi, E Bertini, G Uziel, ... Orphanet journal of rare diseases 6, 1-13, 2011 | 58 | 2011 |
| Characterization of iduronate‐2‐sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR‐based method S Lualdi, S Regis, M Di Rocco, F Corsolini, M Stroppiano, D Antuzzi, ... Human mutation 25 (5), 491-497, 2005 | 53 | 2005 |
| Molecular characterization of 22 novel UDP‐N‐acetylglucosamine‐1‐phosphate transferase α‐ and β‐subunit (GNPTAB) gene mutations causing mucolipidosis … B Tappino, NA Chuzhanova, S Regis, A Dardis, F Corsolini, M Stroppiano, ... Human mutation 30 (11), E956-E973, 2009 | 51 | 2009 |
| An Asn> Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic … S Regis, M Filocamo, F Corsolini, F Caroli, JLM Keulemans, ... European Journal of Human Genetics 7 (2), 125-130, 1999 | 47 | 1999 |
| Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity S Regis, F Corsolini, M Stroppiano, R Cusano, M Filocamo Human genetics 110, 351-355, 2002 | 46 | 2002 |
| Imatinib and nilotinib off-target effects on human NK cells, monocytes, and M2 macrophages F Bellora, A Dondero, MV Corrias, B Casu, S Regis, F Caliendo, A Moretta, ... The Journal of Immunology 199 (4), 1516-1525, 2017 | 45 | 2017 |
| Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene M Traverso, M Malnati, C Minetti, S Regis, S Tedeschi, M Pedemonte, ... Biochemical and biophysical research communications 339 (1), 145-150, 2006 | 43 | 2006 |
| An Alu-mediated rearrangement as cause of exon skipping in Hunter disease V Ricci, S Regis, M Di Duca, M Filocamo Human genetics 112, 419-425, 2003 | 42 | 2003 |
| Cell-laden hydrogel as a clinical-relevant 3D model for analyzing neuroblastoma growth, immunophenotype, and susceptibility to therapies A Marrella, A Dondero, M Aiello, B Casu, D Olive, S Regis, C Bottino, ... Frontiers in immunology 10, 1876, 2019 | 38 | 2019 |
| Mutations c. 459+ 1G> A and p. P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries A Lugowska, O Amaral, J Berger, L Berna, NU Bosshard, A Chabas, ... Molecular genetics and metabolism 86 (3), 353-359, 2005 | 37 | 2005 |
| PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus–Merzbacher disease patients S Regis, S Grossi, F Corsolini, R Biancheri, M Filocamo Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1792 (6), 548-554, 2009 | 35 | 2009 |
| Molecular analysis of ARSA and PSAP genes in twenty‐one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles S Grossi, S Regis, C Rosano, F Corsolini, G Uziel, M Sessa, M Di Rocco, ... Human mutation 29 (11), E220-E230, 2008 | 33 | 2008 |
