Zobrazeno 1 - 10
of 999
pro vyhledávání: '"Carla, Marini"'
Autor:
Antonella Riva, Antonietta Coppola, Francesca Bisulli, Alberto Verrotti, Irene Bagnasco, Maurizio Elia, Francesca Darra, Simona Lattanzi, Stefano Meletti, Angela La Neve, Giancarlo Di Gennaro, Isabella Brambilla, Katia Santoro, Tommaso Prisco, Francesca Macari, Antonio Gambardella, Carlo diBonaventura, Simona Balestrini, Carla Marini, Dario Pruna, Giuseppe Capovilla, Nicola Specchio, Giuseppe Gobbi, Pasquale Striano, the iRARE Study Group
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1857-1867 (2024)
Abstract Objective Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish a consensus on key issues related to these conditions through collaboration among experienced neurologists, neurope
Externí odkaz:
https://doaj.org/article/aee12165e9f44506874795f612aec97d
Autor:
Rebekah de Nys, Clare L. van Eyk, Tarin Ritchie, Rikke S. Møller, Ingrid E. Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Clustering Epilepsy (CE) is an epileptic disorder with neurological comorbidities caused by heterozygous variants of the X chromosome gene Protocadherin 19 (PCDH19). Recent studies have implicated dysregulation of the Nuclear Hormone Recepto
Externí odkaz:
https://doaj.org/article/49c5d18714fc434c9a7aaf572909f7c5
Autor:
Antonella Riva, Roberta Roberti, Gianluca D'Onofrio, Maria Stella Vari, Elisabetta Amadori, Valentina De Giorgis, Caterina Cerminara, Nicola Specchio, Nicola Pietrafusa, Mario Tombini, Giovanni Assenza, Silvia Cappanera, Carla Marini, Paolo Rasmini, Pierangelo Veggiotti, Federico Zara, Emilio Russo, Pasquale Striano
Publikováno v:
Epilepsia Open, Vol 8, Iss 3, Pp 1142-1150 (2023)
Abstract Response to antiseizure medications (ASMs) can be influenced by several gene polymorphisms, causing either lower efficacy or higher occurrence of adverse drug reactions (ADRs). We investigated the clinical utility of salivary pharmacogenomic
Externí odkaz:
https://doaj.org/article/89748850918e4af5aae8b4008c9d68b6
Autor:
Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini
Publikováno v:
Epilepsia Open, Vol 8, Iss 2, Pp 517-534 (2023)
Abstract Objectives We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools an
Externí odkaz:
https://doaj.org/article/b4967b84c41b483295572c1cca76ccff
Autor:
Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder leading to severe combined serotonin, dopamine, norepinephrine, and epinephrine deficiency. We report on a female patient with borderline func
Externí odkaz:
https://doaj.org/article/bf4fab006bb44353b9e9ea7456debe5d
Autor:
Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini, Francesca Felicia Operto, Alice Pizzolato, Ruggero Di Maulo, Fabiola Martino, Andrea Lodi, Carla Marini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights
Externí odkaz:
https://doaj.org/article/e782272d1e5e409fbba62870009607c4
Autor:
Sara Gasparini, Edoardo Ferlazzo, Sabrina Neri, Vittoria Cianci, Alfonso Iudice, Francesca Bisulli, Paolo Bonanni, Emanuele Caggia, Alfredo D'Aniello, Carlo Di Bonaventura, Jacopo C. DiFrancesco, Elisabetta Domina, Fedele Dono, Antonio Gambardella, Carla Marini, Alfonso Marrelli, Sara Matricardi, Alessandra Morano, Francesco Paladin, Rosaria Renna, Pasquale Striano, Angelo Pascarella, Michele Ascoli, Umberto Aguglia, PEROC Study Group
Publikováno v:
Epilepsia Open, Vol 7, Iss 4, Pp 687-696 (2022)
Abstract Objective Perampanel (PER) is indicated as adjunctive antiseizure medication (ASM) in adolescents and adults with epilepsy. Data from clinical trials show good efficacy and tolerability, while limited information is available on the routine
Externí odkaz:
https://doaj.org/article/935ccf7ad591486abdbe146b8d5d1a59
Autor:
Anna Rosati, Manuela L’Erario, Roberto Bianchi, Sara Olivotto, Domenica Immacolata Battaglia, Francesca Darra, Paolo Biban, Annibale Biggeri, Dolores Catelan, Giacomo Danieli, Maria Cristina Mondardini, Duccio Maria Cordelli, Angela Amigoni, Elisabetta Cesaroni, Alessandra Conio, Paola Costa, Martina Lombardini, Rosanna Meleleo, Alessandra Pugi, Elena Eve Tornaboni, Marta Elena Santarone, Roberta Vittorini, Stefano Sartori, Carla Marini, Federico Vigevano, Massimo Mastrangelo, Silvia Maria Pulitanò, Francesca Izzo, Lucia Fusco
Publikováno v:
Epilepsia Open, Vol 7, Iss 3, Pp 532-540 (2022)
Abstract Objective To discuss the results of the KETASER01 trial and the reasons for its failure, particularly in view of future studies. Methods KETASER01 is a multicenter, randomized, controlled, open‐label, sequentially designed, non‐profit It
Externí odkaz:
https://doaj.org/article/4d10adf3a45b464680f5ae51665dca45
Autor:
Pantalone, Gloria, Mancardi, Maria Margherita, Rossi, Andrea, Romanelli, Roberta, Marasco, Elena, Carla, Marini
Publikováno v:
American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-6, 6p
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