Report for Marini C

General

Full name : Marini Carla

First name : Carla

Mail : Child Neurology Unit, Children's Hospital A. Meyer, University of Florence, Florence

Zip Code :

City :

Country : Italy

Email :

Phone :

Fax :

Website :

Directory :

References (6)

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 : Hildebrand_2015_Ann.Clin.Transl.Neurol_2_821
ESTHER : Hildebrand_2015_Ann.Clin.Transl.Neurol_2_821
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 : Muhle_2010_Epilepsia_51_2453
ESTHER : Muhle_2010_Epilepsia_51_2453
PubMedSearch : Muhle_2010_Epilepsia_51_2453
PubMedID: 21204805

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 : Fedi_2008_Neurology_71_795
ESTHER : Fedi_2008_Neurology_71_795
PubMedSearch : Fedi_2008_Neurology_71_795
PubMedID: 18685138

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 : Hoda_2008_Mol.Pharmacol_74_379
ESTHER : Hoda_2008_Mol.Pharmacol_74_379
PubMedSearch : Hoda_2008_Mol.Pharmacol_74_379
PubMedID: 18456869

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 : Marini_2007_Biochem.Pharmacol_74(8)_1308
ESTHER : Marini_2007_Biochem.Pharmacol_74(8)_1308
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 : Aridon_2006_Am.J.Hum.Genet_79_342
ESTHER : Aridon_2006_Am.J.Hum.Genet_79_342
PubMedSearch : Aridon_2006_Am.J.Hum.Genet_79_342
PubMedID: 16826524