| Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ... The American Journal of Human Genetics 96 (5), 816-825, 2015 | 88 | 2015 |
| p. Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas V Pinna, V Lanari, P Daniele, F Consoli, E Agolini, K Margiotti, I Bottillo, ... European Journal of Human Genetics 23 (8), 1068-1071, 2015 | 80 | 2015 |
| Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade L Cesarini, P Alfieri, F Pantaleoni, I Vasta, M Cerutti, V Petrangeli, ... American Journal of Medical Genetics Part A 149 (2), 140-146, 2009 | 80 | 2009 |
| Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations CP Kratz, G Zampino, M Kriek, SG Kant, C Leoni, F Pantaleoni, ... American Journal of Medical Genetics Part A 149 (5), 1036-1040, 2009 | 53 | 2009 |
| Behavioral profile in RASopathies P Alfieri, G Piccini, C Caciolo, F Perrino, ML Gambardella, M Mallardi, ... American Journal of Medical Genetics Part A 164 (4), 934-942, 2014 | 51 | 2014 |
| Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome E Flex, A Ciolfi, V Caputo, V Fodale, C Leoni, D Melis, MF Bedeschi, ... Journal of medical genetics 50 (8), 493-499, 2013 | 40 | 2013 |
| Enhanced human brain associative plasticity in Costello syndrome M Dileone, P Profice, F Pilato, P Alfieri, L Cesarini, E Mercuri, C Leoni, ... The Journal of physiology 588 (18), 3445-3456, 2010 | 32 | 2010 |
| Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade P Alfieri, L Cesarini, M Mallardi, G Piccini, C Caciolo, C Leoni, N Mirante, ... Behavior genetics 41 (3), 423-429, 2011 | 27 | 2011 |
| Understanding growth failure in Costello syndrome: increased resting energy expenditure C Leoni, R Onesimo, V Giorgio, A Diamanti, D Giorgio, L Martini, ... The Journal of pediatrics 170, 322-324, 2016 | 23 | 2016 |
| Congenital immunodeficiency in an individual with Wiedemann–Steiner syndrome due to a novel missense mutation in KMT2A E Stellacci, R Onesimo, A Bruselles, S Pizzi, D Battaglia, C Leoni, ... American Journal of Medical Genetics Part A 170 (9), 2389-2393, 2016 | 22 | 2016 |
| Visual function in Noonan and LEOPARD syndrome P Alfieri, L Cesarini, G Zampino, F Pantaleoni, A Selicorni, A Salerni, ... Neuropediatrics 39 (06), 335-340, 2008 | 22 | 2008 |
| Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy G Della Marca, E Scarano, C Leoni, S Dittoni, A Losurdo, E Testani, ... Sleep and Breathing 16 (1), 5-10, 2012 | 19 | 2012 |
| Psychopathological features in Noonan syndrome F Perrino, S Licchelli, G Serra, G Piccini, C Caciolo, P Pasqualetti, F Cirillo, ... European Journal of Paediatric Neurology 22 (1), 170-177, 2018 | 16 | 2018 |
| The fourth international symposium on genetic disorders of the Ras/MAPK pathway DA Stevenson, L Schill, L Schoyer, BS Andresen, A Bakker, ... American Journal of Medical Genetics Part A 170 (8), 1959-1966, 2016 | 15 | 2016 |
| Decreased bone mineral density in Costello syndrome C Leoni, DA Stevenson, L Martini, R De Sanctis, G Mascolo, F Pantaleoni, ... Molecular genetics and metabolism 111 (1), 41-45, 2014 | 14 | 2014 |
| Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review E Testani, E Scarano, C Leoni, S Dittoni, A Losurdo, S Colicchio, V Gnoni, ... American Journal of Medical Genetics Part A 164 (8), 2029-2035, 2014 | 13 | 2014 |
| First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma C Leoni, G Gullo, N Resta, A Fagotti, R Onesimo, B Schwartz, J Kazakin, ... American Journal of Medical Genetics Part A 179 (7), 1319-1324, 2019 | 12 | 2019 |
| Giant subcortical heterotopia involving the temporo-parieto-occipital region: a challenging cause of drug-resistant epilepsy F Novegno, D Battaglia, D Chieffo, P Frassanito, C Leoni, G Tamburrini, ... Epilepsy research 87 (1), 88-94, 2009 | 9 | 2009 |
| Increased levels of glial cell-derived neurotrophic factor in CSF of infants with SMA A Chiaretti, C Leoni, G Barone, O Genovese, C Brahe, P Mariotti, G Conti Pediatric neurology 41 (3), 195-199, 2009 | 9 | 2009 |
| The dark side of COVID‐19: The need of integrated medicine for children with special care needs C Leoni, V Giorgio, R Onesimo, L Tarani, M Celli, A Selicorni, G Zampino American journal of medical genetics. Part A, 2020 | 8 | 2020 |
paolo MariottineurologiaVerified email at mclink.it
