MARINI, CARLA
MARINI, CARLA
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
2000 Phillips, H A; Marini, C; Scheffer, I E; Sutherland, G R; Mulley, J C; Berkovic, S F
A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding
2006 Fedi, Marco; Berkovic, Samuel F.; Marini, Carla; Mulligan, Rachel; Tochon-Danguy, Henri; Reutens, David C.
Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy
2002 Bowser, David N.; Wagner, David A.; Czajkowski, Cynthia; Cromer, Brett A.; Parker, Michael W.; Wallace, Robyn H.; Harkin, Louise A.; Mulley, John C.; Marini, Carla; Berkovic, Samuel F.; Williams, David A.; Jones, Mathew V.; Petrou, Steven*
Atypical face shape and genomic structural variants in epilepsy
2012 Chinthapalli K; Bartolini E; Novy J; Suttie M; Marini C; Falchi M; Fox Z; Clayton LM; Sander JW; Guerrini R; Depondt C; Hennekam R; Hammond P; Sisodiya SM
Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas
1998 Cerullo, A; Tinuper, P; Provini, F; Contin, M; Rosati, A; Marini, C; Cortelli, P
Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree.
2006 Gardella E; Tinuper P; Marini C; Guerrini R; Parrini E; Bisulli F; Liguori R; Montagna P; Lugaresi E.
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
2004 Berkovic SF; Heron SE; Giordano L; Marini C; Guerrini R; Kaplan RE; Gambardella A; Steinlein OK; Grinton BE; Dean JT; Bordo L; Hodgson BL; Yamamoto T; Mulley JC; Zara F; Scheffer IE.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
2019 Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedì, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia Wortmann, Erez Y Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
2017 Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher; Lehmann, Andrea; Cogné, Benjamin; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Bézieau, Stéphane; Hazart, Isabelle; Nagakura, Honey; Immken, LaDonna L.; Littlejohn, Rebecca O.; Roeder, Elizabeth; Afawi, Zaid; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Craiu, Dana; De Jonghe, Peter; Guerrero-Lopez, Rosa; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Jähn, Johanna; Klein, Karl Martin; Leguern, Eric; Lerche, Holger; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; Serratosa, José; Sterbová, Katalin; Suls, Arvid; Moller, Rikke S.; Striano, Pasquale; Weber, Yvonne; Zara, Federico; Kara, Bulent; Hardies, Katia; Weckhuysen, Sarah; May, Patrick; Lemke, Johannes R.; Elpeleg, Orly; Abu-Libdeh, Bassam; James, Kiely N.; Silhavy, Jennifer L.; Issa, Mahmoud Y.; Zaki, Maha S.; Gleeson, Joseph G.; Seavitt, John R.; Dickinson, Mary E.; Ljungberg, M. Cecilia; Wells, Sara; Johnson, Sara J.; Teboul, Lydia; Eng, Christine M.; Yang, Yaping; Kloetzel, Peter-Michael; Heaney, Jason D.; Walkiewicz, Magdalena A.
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.
2007 Striano P; Mancardi MM; Biancheri R; Madia F; Gennaro E; Paravidino R; Beccaria F; Capovilla G; Dalla Bernardina B; Darra F; Elia M; Giordano L; Gobbi G; Granata T; Ragona F; Guerrini R; Marini C; Mei D; Longaretti F; Romeo A; Siri L; Specchio N; Vigevano F; Striano S; Tortora F; Rossi A; Minetti C; Dravet C; Gaggero R; Zara F.
Can we increase the likelihood of success for future association studies in epilepsy?
2006 Durner M; Gorroochurn P; Marini C; Guerrini R.
CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet
2017 Sharma, Suvasini*; Goel, Shaiphali; Jain, Puneet; Marini, Carla; Mei, Davide
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
2011 Melani F; Mei D; Pisano T; Savasta S; Franzoni E; Ferrari AR; Marini C; Guerrini R.
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
2003 Marini, Carla; Harkin, Louise A; Wallace, Robyn H; Mulley, John C; Scheffer, Ingrid E; Berkovic, Samuel F
Climate change and epilepsy: Insights from clinical and basic science studies
2021 Gulcebi, Medine, I; Bartolini, Emanuele; Lee, Omay; Lisgaras, Christos Panagiotis; Onat, Filiz; Mifsud, Janet; Striano, Pasquale; Vezzani, Annamaria; Hildebrand, Michael S.; Jimenez-Jimenez, Diego; Junck, Larry; Lewis-Smith, David; Scheffer, Ingrid E.; Thijs, Roland D.; Zuberi, Sameer M.; Blenkinsop, Stephen; Fowler, Hayley J.; Foley, Aideen; Sisodiya, Sanjay M.; Balestrini, Simona; Berkovic, Samuel; Cavalleri, Gianpiero; Correa, Daniel Jose; Custodio, Helena Martins; Galovic, Marian; Guerrini, Renzo; Henshall, David; Howard, Olga; Hughes, Kelvin; Katsarou, Anna; Koeleman, Bobby P. C.; Krause, Roland; Lowenstein, Daniel; Mandelenaki, Despoina; Marini, Carla; O'Brien, Terence J.; Pace, Adrian; De Palma, Luca; Perucca, Piero; Pitkanen, Asla; Quinn, Finola; Selmer, Kaja Kristine; Steward, Charles A.; Swanborough, Nicola; Thijs, Roland; Tittensor, Phil; Trivisano, Marina; Weckhuysen, Sarah; Zara, Federico
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
2017 Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R.
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication
2013 Carla Marini;Antonella Cecconi;Elisa Contini;Marilena Pantaleo;Tiziana Metitieri;Silvia Guarducci;Sabrina Giglio;Renzo Guerrini;Maurizio Genuardi
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
2010 Leventer RJ; Jansen A; Pilz DT; Stoodley N; Marini C; Dubeau F; Malone J; Mitchell LA; Mandelstam S; Scheffer IE; Berkovic SF; Andermann F; Andermann E; Guerrini R; Dobyns WB.
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.
2013 Fabbri M; Marini C; Bisulli F; Di Vito L; Elia A; Guerrini R; Mei D; Tinuper P.
Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder
1999 Cerullo, A; Marini, C; Carcangiu, R; Baruzzi, A; Tinuper, P
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A de novo mutation in sporadic nocturnal frontal lobe epilepsy | 2000 | Phillips, H A; Marini, C; Scheffer, I E; Sutherland, G R; Mulley, J C; Berkovic, S F | |
| A GABAAreceptor mutation causing generalized epilepsy reduces benzodiazepine receptor binding | 2006 | Fedi, Marco; Berkovic, Samuel F.; Marini, Carla; Mulligan, Rachel; Tochon-Danguy, Henri; Reutens, David C. | |
| Altered kinetics and benzodiazepine sensitivity of a GABAAreceptor subunit mutation [γ2(R43Q)] found in human epilepsy | 2002 | Bowser, David N.; Wagner, David A.; Czajkowski, Cynthia; Cromer, Brett A.; Parker, Michael W.; Wallace, Robyn H.; Harkin, Louise A.; Mulley, John C.; Marini, Carla; Berkovic, Samuel F.; Williams, David A.; Jones, Mathew V.; Petrou, Steven* | |
| Atypical face shape and genomic structural variants in epilepsy | 2012 | Chinthapalli K; Bartolini E; Novy J; Suttie M; Marini C; Falchi M; Fox Z; Clayton LM; Sander JW; Guerrini R; Depondt C; Hennekam R; Hammond P; Sisodiya SM | |
| Autonomic and hormonal ictal changes in gelastic seizures from hypothalamic hamartomas | 1998 | Cerullo, A; Tinuper, P; Provini, F; Contin, M; Rosati, A; Marini, C; Cortelli, P | |
| Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree. | 2006 | Gardella E; Tinuper P; Marini C; Guerrini R; Parrini E; Bisulli F; Liguori R; Montagna P; Lugaresi E. | |
| Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. | 2004 | Berkovic SF; Heron SE; Giordano L; Marini C; Guerrini R; Kaplan RE; Gambardella A; Steinlein OK; Grinton BE; Dean JT; Bordo L; Hodgson BL; Yamamoto T; Mulley JC; Zara F; Scheffer IE. | |
| Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course | 2019 | Alessandro Esposito, Antonio Falace, Matias Wagner, Moran Gal, Davide Mei, Valerio Conti, Tiziana Pisano, Davide Aprile, Maria Sabina Cerullo, Antonio De Fusco, Silvia Giovedì, Annette Seibt, Daniella Magen, Tilman Polster, Ayelet Eran, Sarah L Stenton, Chiara Fiorillo, Sarit Ravid, Ertan Mayatepek, Hava Hafner, Saskia Wortmann, Erez Y Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini | |
| Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features | 2017 | Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher; Lehmann, Andrea; Cogné, Benjamin; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Bézieau, Stéphane; Hazart, Isabelle; Nagakura, Honey; Immken, LaDonna L.; Littlejohn, Rebecca O.; Roeder, Elizabeth; Afawi, Zaid; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Craiu, Dana; De Jonghe, Peter; Guerrero-Lopez, Rosa; Guerrini, Renzo; Helbig, Ingo; Hjalgrim, Helle; Jähn, Johanna; Klein, Karl Martin; Leguern, Eric; Lerche, Holger; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; Serratosa, José; Sterbová, Katalin; Suls, Arvid; Moller, Rikke S.; Striano, Pasquale; Weber, Yvonne; Zara, Federico; Kara, Bulent; Hardies, Katia; Weckhuysen, Sarah; May, Patrick; Lemke, Johannes R.; Elpeleg, Orly; Abu-Libdeh, Bassam; James, Kiely N.; Silhavy, Jennifer L.; Issa, Mahmoud Y.; Zaki, Maha S.; Gleeson, Joseph G.; Seavitt, John R.; Dickinson, Mary E.; Ljungberg, M. Cecilia; Wells, Sara; Johnson, Sara J.; Teboul, Lydia; Eng, Christine M.; Yang, Yaping; Kloetzel, Peter-Michael; Heaney, Jason D.; Walkiewicz, Magdalena A. | |
| Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations. | 2007 | Striano P; Mancardi MM; Biancheri R; Madia F; Gennaro E; Paravidino R; Beccaria F; Capovilla G; Dalla Bernardina B; Darra F; Elia M; Giordano L; Gobbi G; Granata T; Ragona F; Guerrini R; Marini C; Mei D; Longaretti F; Romeo A; Siri L; Specchio N; Vigevano F; Striano S; Tortora F; Rossi A; Minetti C; Dravet C; Gaggero R; Zara F. | |
| Can we increase the likelihood of success for future association studies in epilepsy? | 2006 | Durner M; Gorroochurn P; Marini C; Guerrini R. | |
| CDKL-5 encephalopathy in an Indian girl: Partial response to the modified Atkins diet | 2017 | Sharma, Suvasini*; Goel, Shaiphali; Jain, Puneet; Marini, Carla; Mei, Davide | |
| CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. | 2011 | Melani F; Mei D; Pisano T; Savasta S; Franzoni E; Ferrari AR; Marini C; Guerrini R. | |
| Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation | 2003 | Marini, Carla; Harkin, Louise A; Wallace, Robyn H; Mulley, John C; Scheffer, Ingrid E; Berkovic, Samuel F | |
| Climate change and epilepsy: Insights from clinical and basic science studies | 2021 | Gulcebi, Medine, I; Bartolini, Emanuele; Lee, Omay; Lisgaras, Christos Panagiotis; Onat, Filiz; Mifsud, Janet; Striano, Pasquale; Vezzani, Annamaria; Hildebrand, Michael S.; Jimenez-Jimenez, Diego; Junck, Larry; Lewis-Smith, David; Scheffer, Ingrid E.; Thijs, Roland D.; Zuberi, Sameer M.; Blenkinsop, Stephen; Fowler, Hayley J.; Foley, Aideen; Sisodiya, Sanjay M.; Balestrini, Simona; Berkovic, Samuel; Cavalleri, Gianpiero; Correa, Daniel Jose; Custodio, Helena Martins; Galovic, Marian; Guerrini, Renzo; Henshall, David; Howard, Olga; Hughes, Kelvin; Katsarou, Anna; Koeleman, Bobby P. C.; Krause, Roland; Lowenstein, Daniel; Mandelenaki, Despoina; Marini, Carla; O'Brien, Terence J.; Pace, Adrian; De Palma, Luca; Perucca, Piero; Pitkanen, Asla; Quinn, Finola; Selmer, Kaja Kristine; Steward, Charles A.; Swanborough, Nicola; Thijs, Roland; Tittensor, Phil; Trivisano, Marina; Weckhuysen, Sarah; Zara, Federico | |
| Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations | 2017 | Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, Pucatti D, Ferrari A, Sicca F, Specchio N, Trivisano M, Battaglia D, Contaldo I, Zamponi N, Petrelli C, Granata T, Ragona F, Avanzini G, Guerrini R. | |
| Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication | 2013 | Carla Marini;Antonella Cecconi;Elisa Contini;Marilena Pantaleo;Tiziana Metitieri;Silvia Guarducci;Sabrina Giglio;Renzo Guerrini;Maurizio Genuardi | |
| Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. | 2010 | Leventer RJ; Jansen A; Pilz DT; Stoodley N; Marini C; Dubeau F; Malone J; Mitchell LA; Mandelstam S; Scheffer IE; Berkovic SF; Andermann F; Andermann E; Guerrini R; Dobyns WB. | |
| Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. | 2013 | Fabbri M; Marini C; Bisulli F; Di Vito L; Elia A; Guerrini R; Mei D; Tinuper P. | |
| Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder | 1999 | Cerullo, A; Marini, C; Carcangiu, R; Baruzzi, A; Tinuper, P |