| Congenital heart disease in mice deficient for the DiGeorge syndrome region EA Lindsay, A Botta, V Jurecic, S Carattini-Rivera, YC Cheah, ... Nature 401 (6751), 379-383, 1999 | 472 | 1999 |
| Searching for psoriasis susceptibility genes in Italy: genome scan and evidence for a new locus on chromosome 1 F Capon, G Novelli, S Semprini, M Clementi, M Nudo, P Vultaggio, ... Journal of Investigative Dermatology 112 (1), 32-35, 1999 | 267 | 1999 |
| Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients S Gambardella, F Rinaldi, SM Lepore, A Viola, E Loro, C Angelini, ... Journal of translational medicine 8, 1-9, 2010 | 141 | 2010 |
| Detection of an atypical 7q11. 23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes A Botta, G Novelli, A Mari, A Novelli, M Sabani, J Korenberg, LR Osborne, ... Journal of medical genetics 36 (6), 478-480, 1999 | 136 | 1999 |
| Riboflavin-responsive and-non-responsive mutations in FAD synthase cause multiple acyl-CoA dehydrogenase and combined respiratory-chain deficiency RKJ Olsen, E Koňaříková, TA Giancaspero, S Mosegaard, V Boczonadi, ... The American journal of human genetics 98 (6), 1130-1145, 2016 | 129 | 2016 |
| Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees S Semprini, F Capon, A Tacconelli, E Giardina, A Orecchia, R Mingarelli, ... Human genetics 111, 310-313, 2002 | 114 | 2002 |
| Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells E Loro, F Rinaldi, A Malena, E Masiero, G Novelli, C Angelini, V Romeo, ... Cell Death & Differentiation 17 (8), 1315-1324, 2010 | 100 | 2010 |
| Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 A Perfetti, S Greco, R Cardani, B Fossati, G Cuomo, R Valaperta, ... Scientific reports 6 (1), 38174, 2016 | 65 | 2016 |
| Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients LB Salehi, E Bonifazi, ED Stasio, M Gennarelli, A Botta, L Vallo, R Iraci, ... Genetic testing 11 (1), 84-90, 2007 | 65 | 2007 |
| Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation A Botta, EA Lindsay, V Jurecic, A Baldini Mammalian genome 8 (12), 890-895, 1997 | 62 | 1997 |
| Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2 A Botta, L Vallo, F Rinaldi, E Bonifazi, F Amati, M Biancolella, ... Gene expression 13 (6), 339, 2007 | 60 | 2007 |
| Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis M Santoro, M Masciullo, G Silvestri, G Novelli, A Botta Clinical Genetics 92 (4), 355-364, 2017 | 59 | 2017 |
| The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, ... Journal of medical genetics 45 (10), 639-646, 2008 | 58 | 2008 |
| Effect of the [CCTG] n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2) A Botta, S Caldarola, L Vallo, E Bonifazi, D Fruci, F Gullotta, R Massa, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1762 (3), 329-334, 2006 | 56 | 2006 |
| Vitamin D receptor in muscle atrophy of elderly patients: a key element of osteoporosis-sarcopenia connection M Scimeca, F Centofanti, M Celi, E Gasbarra, G Novelli, A Botta, ... Aging and disease 9 (6), 952, 2018 | 53 | 2018 |
| SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype E Bugiardini, I Rivolta, A Binda, AS Caminero, F Cirillo, A Cinti, ... Neuromuscular disorders 25 (4), 301-307, 2015 | 52 | 2015 |
| Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 R Cardani, M Giagnacovo, A Botta, F Rinaldi, A Morgante, B Udd, ... Journal of neurology 259, 2090-2099, 2012 | 52 | 2012 |
| Association study of a promoter polymorphism of UFD1L gene with schizophrenia A De Luca, A Pasini, F Amati, A Botta, G Spalletta, S Alimenti, F Caccamo, ... American journal of medical genetics 105 (6), 529-533, 2001 | 49 | 2001 |
| An age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome Province, Italy N Vanacore, E Rastelli, G Antonini, MLE Bianchi, A Botta, E Bucci, ... Neuroepidemiology 46 (3), 191-197, 2016 | 45 | 2016 |
| Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study S Rossi, G Della Marca, M Ricci, A Perna, TF Nicoletti, V Brunetti, E Meleo, ... Journal of the neurological sciences 399, 118-124, 2019 | 44 | 2019 |
