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| Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ... Nature genetics 46 (5), 503-509, 2014 | 595 | 2014 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 578 | 2015 |
| Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system? JA Eyre, M Smith, L Dabydeen, GJ Clowry, E Petacchi, R Battini, ... Annals of Neurology: Official Journal of the American Neurological …, 2007 | 290 | 2007 |
| tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia BS Budde, Y Namavar, PG Barth, BT Poll-The, G Nürnberg, C Becker, ... Nature genetics 40 (9), 1113-1118, 2008 | 261 | 2008 |
| North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy E Mazzone, D Martinelli, A Berardinelli, S Messina, A D’Amico, G Vasco, ... Neuromuscular Disorders 20 (11), 712-716, 2010 | 249 | 2010 |
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| Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study E Mazzone, G Vasco, MP Sormani, Y Torrente, A Berardinelli, S Messina, ... Neurology 77 (3), 250-256, 2011 | 234 | 2011 |
| Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy E Mercuri, E Bertini, S Messina, A Solari, A D'amico, C Angelozzi, ... Neurology 68 (1), 51-55, 2007 | 200 | 2007 |
| Deficits in memory and hippocampal long-term potentiation in mice with reduced calbindin D28K expression. S Molinari, R Battini, S Ferrari, L Pozzi, AS Killcross, TW Robbins, ... Proceedings of the National Academy of Sciences 93 (15), 8028-8033, 1996 | 179 | 1996 |
| GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings A Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011 | 173 | 2011 |
| Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy J Schessl, Y Zou, MJ McGrath, BS Cowling, B Maiti, SS Chin, C Sewry, ... The Journal of clinical investigation 118 (3), 904-912, 2008 | 163 | 2008 |
| AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders EM Valente, F Brancati, JL Silhavy, M Castori, SE Marsh, G Barrano, ... Annals of neurology 59 (3), 527-534, 2006 | 154 | 2006 |
| 24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy ES Mazzone, M Pane, MP Sormani, R Scalise, A Berardinelli, S Messina, ... PloS one 8 (1), e52512, 2013 | 147 | 2013 |
| Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes M Pane, ES Mazzone, S Sivo, MP Sormani, S Messina, A D′ Amico, ... PLoS One 9 (10), e108205, 2014 | 137 | 2014 |
| Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease R Battini, MG Alessandrì, V Leuzzi, F Moro, M Tosetti, MC Bianchi, G Cioni The Journal of pediatrics 148 (6), 828-830, 2006 | 134 | 2006 |
| Daily salbutamol in young patients with SMA type II M Pane, S Staccioli, S Messina, A D’Amico, M Pelliccioni, ES Mazzone, ... Neuromuscular Disorders 18 (7), 536-540, 2008 | 131 | 2008 |
| Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ... Nature genetics 48 (10), 1185-1192, 2016 | 129 | 2016 |
| Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance MC Bianchi, M Tosetti, R Battini, ML Manca, M Mancuso, G Cioni, ... American journal of neuroradiology 24 (10), 1958-1966, 2003 | 129 | 2003 |
| Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree R Battini, V Leuzzi, C Carducci, M Tosetti, MC Bianchi, ... Molecular genetics and metabolism 77 (4), 326-331, 2002 | 124 | 2002 |
