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| 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 : Galactosialidosis: review and analysis of CTSA gene mutations - Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| Author(s) : Caciotti A , Catarzi S , Tonin R , Lugli L , Perez CR , Michelakakis H , Mavridou I , Donati MA , Guerrini R , d'Azzo A , Morrone A |
| Ref : Orphanet J Rare Dis , 8 :114 , 2013 |
| Abstract : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| ESTHER : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedSearch : Caciotti_2013_Orphanet.J.Rare.Dis_8_114 |
| PubMedID: 23915561 |
| Gene_locus related to this paper: human-CTSA |
| 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 : 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 |