| The clinical and diagnostic implications mosaicism in the neurofibromatoses M Ruggieri, SM Huson Neurology 56 (11), 1433-1443, 2001 | 462 | 2001 |
| Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study B Banwell, L Krupp, J Kennedy, R Tellier, S Tenembaum, J Ness, ... The Lancet Neurology 6 (9), 773-781, 2007 | 427 | 2007 |
| Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013 P Pavone, P Striano, R Falsaperla, L Pavone, M Ruggieri Brain and development 36 (9), 739-751, 2014 | 241 | 2014 |
| Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic … M Upadhyaya, M Ruggieri, J Maynard, M Osborn, C Hartog, S Mudd, ... Human genetics 102, 591-597, 1998 | 225 | 1998 |
| Multiple sclerosis in children under 6 years of age M Ruggieri, A Polizzi, L Pavone, LME Grimaldi Neurology 53 (3), 478-478, 1999 | 215 | 1999 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 201 | 2019 |
| The different forms of neurofibromatosis M Ruggieri Child's Nervous System 15, 295-308, 1999 | 165 | 1999 |
| The neurology of coeliac disease in childhood: what is the evidence? A systematic review and meta‐analysis E Lionetti, R Francavilla, P Pavone, L Pavone, T Francavilla, A Pulvirenti, ... Developmental Medicine & Child Neurology 52 (8), 700-707, 2010 | 160 | 2010 |
| Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas C Carbonara, L Longa, E Grosso, G Mazzucco, C Borrone, ML Garrè, ... Genes, Chromosomes and Cancer 15 (1), 18-25, 1996 | 160 | 1996 |
| Topical review: Hypomelanosis of Ito: clinical syndrome or just phenotype? M Ruggieri, L Pavone Journal of Child Neurology 15 (10), 635-644, 2000 | 158 | 2000 |
| Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients M Ruggieri, P Iannetti, A Polizzi, I La Mantia, A Spalice, O Giliberto, ... Neuropediatrics 36 (01), 21-34, 2005 | 144 | 2005 |
| Different roles of matrix metalloproteinases-2 and-9 after human ischaemic stroke V Lucivero, M Prontera, DM Mezzapesa, M Petruzzellis, M Sancilio, ... Neurological Sciences 28, 165-170, 2007 | 143 | 2007 |
| West syndrome: a comprehensive review P Pavone, A Polizzi, SD Marino, G Corsello, R Falsaperla, S Marino, ... Neurological Sciences 41, 3547-3562, 2020 | 141 | 2020 |
| Germline and somatic NF1 gene mutation spectrum in NF1‐associated malignant peripheral nerve sheath tumors (MPNSTs) M Upadhyaya, L Kluwe, G Spurlock, B Monem, E Majounie, ... Human mutation 29 (1), 74-82, 2008 | 139 | 2008 |
| Multiple sclerosis in children under 10 years of age M Ruggieri, P Iannetti, A Polizzi, L Pavone, LME Grimaldi* Neurological Sciences 25, s326-s335, 2004 | 135 | 2004 |
| Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors M Upadhyaya, S Han, C Consoli, E Majounie, M Horan, NS Thomas, ... Human mutation 23 (2), 134-146, 2004 | 123 | 2004 |
| Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation SR Plotkin, L Messiaen, E Legius, P Pancza, RA Avery, JO Blakeley, ... Genetics in Medicine 24 (9), 1967-1977, 2022 | 113 | 2022 |
| Gluten psychosis: confirmation of a new clinical entity E Lionetti, S Leonardi, C Franzonello, M Mancardi, M Ruggieri, C Catassi Nutrients 7 (7), 5532-5539, 2015 | 113 | 2015 |
| Ataxia in children: early recognition and clinical evaluation P Pavone, AD Praticò, V Pavone, R Lubrano, R Falsaperla, R Rizzo, ... Italian Journal of Pediatrics 43, 1-9, 2017 | 111 | 2017 |
| Congenital muscular dystrophy: from muscle to brain R Falsaperla, AD Praticò, M Ruggieri, E Parano, R Rizzo, G Corsello, ... Italian journal of pediatrics 42, 1-11, 2016 | 109 | 2016 |
