Full name : Marini Carla
First name : Carla
Mail : Child Neurology Unit, Children's Hospital A. Meyer, University of Florence, Florence
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Country : Italy
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Comment
Title : PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy - Hildebrand_2015_Ann.Clin.Transl.Neurol_2_821 |
Author(s) : Hildebrand MS , Tankard R , Gazina EV , Damiano JA , Lawrence KM , Dahl HH , Regan BM , Shearer AE , Smith RJ , Marini C , Guerrini R , Labate A , Gambardella A , Tinuper P , Lichetta L , Baldassari S , Bisulli F , Pippucci T , Scheffer IE , Reid CA , Petrou S , Bahlo M , Berkovic SF |
Ref : Ann Clin Transl Neurol , 2 :821 , 2015 |
Abstract : |
PubMedSearch : Hildebrand_2015_Ann.Clin.Transl.Neurol_2_821 |
PubMedID: 26339676 |
Title : A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy - Muhle_2010_Epilepsia_51_2453 |
Author(s) : Muhle H , Steinich I , von Spiczak S , Franke A , Weber Y , Lerche H , Wittig M , Heidemann S , Suls A , De Jonghe P , Marini C , Guerrini R , Scheffer IE , Berkovic SF , Stephani U , Siebert R , Sander T , Helbig I , Tonnies H |
Ref : Epilepsia , 51 :2453 , 2010 |
Abstract : |
PubMedSearch : Muhle_2010_Epilepsia_51_2453 |
PubMedID: 21204805 |
Title : Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore - Hoda_2008_Mol.Pharmacol_74_379 |
Author(s) : Hoda JC , Gu W , Friedli M , Phillips HA , Bertrand S , Antonarakis SE , Goudie D , Roberts R , Scheffer IE , Marini C , Patel J , Berkovic SF , Mulley JC , Steinlein OK , Bertrand D |
Ref : Molecular Pharmacology , 74 :379 , 2008 |
Abstract : |
PubMedSearch : Hoda_2008_Mol.Pharmacol_74_379 |
PubMedID: 18456869 |
Title : Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy - Fedi_2008_Neurology_71_795 |
Author(s) : Fedi M , Berkovic SF , Scheffer IE , O'Keefe G , Marini C , Mulligan R , Gong S , Tochon-Danguy H , Reutens DC |
Ref : Neurology , 71 :795 , 2008 |
Abstract : |
PubMedSearch : Fedi_2008_Neurology_71_795 |
PubMedID: 18685138 |
Title : The role of the nicotinic acetylcholine receptors in sleep-related epilepsy - Marini_2007_Biochem.Pharmacol_74(8)_1308 |
Author(s) : Marini C , Guerrini R |
Ref : Biochemical Pharmacology , 74 :1308 , 2007 |
Abstract : |
PubMedSearch : Marini_2007_Biochem.Pharmacol_74(8)_1308 |
PubMedID: 17662253 |
Title : Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear - Aridon_2006_Am.J.Hum.Genet_79_342 |
Author(s) : Aridon P , Marini C , Di Resta C , Brilli E , De Fusco M , Politi F , Parrini E , Manfredi I , Pisano T , Pruna D , Curia G , Cianchetti C , Pasqualetti M , Becchetti A , Guerrini R , Casari G |
Ref : American Journal of Human Genetics , 79 :342 , 2006 |
Abstract : |
PubMedSearch : Aridon_2006_Am.J.Hum.Genet_79_342 |
PubMedID: 16826524 |