Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations E Parrini, A Ramazzotti, WB Dobyns, D Mei, F Moro, P Veggiotti, C Marini, ... Brain 129 (7), 1892-1906, 2006 | 377 | 2006 |
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11 … R Guerrini, P Bonanni, A Patrignani, P Brown, L Parmeggiani, P Grosse, ... Brain 124 (12), 2459-2475, 2001 | 196 | 2001 |
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus R Guerrini, F Moro, M Kato, AJ Barkovich, T Shiihara, MA McShane, ... Neurology 69 (5), 427-433, 2007 | 181 | 2007 |
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia R Guerrini, D Mei, S Sisodiya, F Sicca, B Harding, Y Takahashi, T Dorn, ... Neurology 63 (1), 51-56, 2004 | 154 | 2004 |
Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease R Battini, MG Alessandrė, V Leuzzi, F Moro, M Tosetti, MC Bianchi, G Cioni The Journal of pediatrics 148 (6), 828-830, 2006 | 134 | 2006 |
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia F Sicca, A Kelemen, P Genton, S Das, D Mei, F Moro, WB Dobyns, ... Neurology 61 (8), 1042-1046, 2003 | 131 | 2003 |
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4. 1 F Sicca, P Imbrici, MC D'Adamo, F Moro, F Bonatti, P Brovedani, ... Neurobiology of disease 43 (1), 239-247, 2011 | 124 | 2011 |
Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations P Bonanni, M Malcarne, F Moro, P Veggiotti, D Buti, AR Ferrari, E Parrini, ... Epilepsia 45 (2), 149-158, 2004 | 119 | 2004 |
Bone marrow harvest for marrow transplantation: Effect of multiple small (2 ml) or large (20 ml) aspirates. A Bacigalupo, J Tong, M Podesta, G Piaggio, O Figari, P Colombo, ... Bone marrow transplantation 9 (6), 467-470, 1992 | 111 | 1992 |
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the … A Kakita, S Hayashi, F Moro, R Guerrini, T Ozawa, K Ono, S Kameyama, ... Acta neuropathologica 104, 649-657, 2002 | 104 | 2002 |
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development C Fiorillo, F Moro, J Yi, S Weil, G Brisca, G Astrea, M Severino, A Romano, ... Human mutation 35 (3), 298-302, 2014 | 101 | 2014 |
Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene F Moro, R Carrozzo, P Veggiotti, G Tortorella, D Toniolo, A Volzone, ... Neurology 58 (6), 916-921, 2002 | 97 | 2002 |
Genetically induced dysfunctions of Kir2. 1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype E Ambrosini, F Sicca, MS Brignone, MC D'adamo, C Napolitano, ... Human Molecular Genetics 23 (18), 4875-4886, 2014 | 83 | 2014 |
CMV prophylaxis with foscarnet in allogeneic bone marrow transplant recipients at high risk of developing CMV infections. A Bacigalupo, E Tedone, MT Van Lint, G Trespi, M Lonngren, MA Sanna, ... Bone marrow transplantation 13 (6), 783-788, 1994 | 83 | 1994 |
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy F Sicca, E Ambrosini, M Marchese, L Sforna, I Servettini, G Valvo, ... Scientific Reports 6 (1), 34325, 2016 | 74 | 2016 |
Abnormal Phonologic Processing in Familial Lateral Temporal Lobe Epilepsy Due to a New LGI1 Mutation T Pisano, C Marini, P Brovedani, D Brizzolara, D Pruna, D Mei, F Moro, ... Epilepsia 46 (1), 118-123, 2005 | 71 | 2005 |
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening M Marchese, V Conti, G Valvo, F Moro, F Muratori, R Tancredi, ... BMC medical genetics 15, 1-7, 2014 | 69 | 2014 |
Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations R Guerrini, F Moro, E Andermann, E Hughes, D D'Agostino, R Carrozzo, ... Annals of neurology 54 (1), 30-37, 2003 | 64 | 2003 |
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly A Fogli, R Guerrini, F Moro, E Fernandez‐Alvarez, M Odile Livet, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 64 | 1999 |
CMV infections following allogeneic BMT: risk factors, early treatment and correlation with transplant related mortality. A Bacigalupo, E Tedone, MA Sanna, F Moro, MT Van Lint, G Grazi, ... Haematologica 77 (6), 507-513, 1992 | 53 | 1992 |