Pasquale Striano


AuthID: R-00G-65G

Publications Awaiting Confirmation

1
TITLE: Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy  Full Text
AUTHORS: Gemma L Carvill; Katherine L Helbig; Candace T Myers; Marcello Scala; Robert Huether; Sara Lewis; Tyler N Kruer; Brandon S Guida; Somayeh Bakhtiari; Joy Sebe; Sha Tang; Heather Stickney; Sehribani Ulusoy Oktay; Ashwin A Bhandiwad; Keri Ramsey; Vinodh Narayanan; Timothy Feyma; Luis O Rohena; Andrea Accogli; Mariasavina Severino; Georgina Hollingsworth; Deepak Gill; Christel Depienne; Caroline Nava; Lynette G Sadleir; Paul A Caruso; Angela E Lin ; Floor E Jansen; Bobby Koeleman; Eva Brilstra; Marjolein H Willemsen; Tjitske Kleefstra; Joaquim Sa; Marie Laure Mathieu; Laurine Perrin; Gaetan Lesca; Pasquale Striano; Giorgio Casari; Ingrid E Scheffer; David Raible; Evelyn Sattlegger; Valeria Capra; Sergio Padilla Lopez; Heather C Mefford; Michael C Kruer; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 7
INDEXED IN: Scopus WOS
2
TITLE: HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond  Full Text
AUTHORS: Carla Marini; Alessandro Porro; Agnes Rastetter; Carine Dalle; Ilaria Rivolta; Daniel Bauer; Renske Oegema; Caroline Nava; Elena Parrini; Davide Mei; Catherine Mercer; Radhika Dhamija; Chelsea Chambers; Christine Coubes; Julien Thevenon; Paul Kuentz; Sophie Julia; Laurent Pasquier; Christele Dubourg; Wilfrid Carre; Anna Rosati; Federico Melani; Tiziana Pisano; Maria Giardino; Micheil M Innes; Yves Alembik; Sophie Scheidecker; Manuela Santos; Sonia Figueiroa; Cristina Garrido; Carlo Fusco; Daniele Frattini; Carlotta Spagnoli; Anna Binda; Tiziana Granata; Francesca Ragona; Elena Freri; Silvana Franceschetti; Laura Canafoglia; Barbara Castellotti; Cinzia Gellera; Raffaella Milanesi; Maria Margherita Mancardi; Damien R Clark; Fernando Kok; Katherine L Helbig; Shoji Ichikawa; Laurie Sadler; Jana Neupauerova; Petra Lassuthova; Katalin Sterbova; Annick Laridon; Eva Brilstra; Bobby Koeleman; Johannes R Lemke; Federico Zara; Pasquale Striano; Julie Soblet; Guillaume Smits; Nicolas Deconinck; Andrea Barbuti; Dario DiFrancesco; Eric LeGuern; Renzo Guerrini; Bina Santoro; Kay Hamacher; Gerhard Thiel; Anna Moroni; Jacopo C DiFrancesco; Christel Depienne; ...More
PUBLISHED: 2018, SOURCE: BRAIN, VOLUME: 141, ISSUE: 11
INDEXED IN: Scopus WOS
3
TITLE: Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A  Full Text
AUTHORS: Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Barbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Joerg Hansen; Guenter Kraemer; Bernhard J Steinhoff; Dominik Zumsteg; Susan Duncan; Reetta K Kaelviaeinen; Kai J Eriksson; Anne Mari Kantanen; Massimo Pandolfo; Ursula Gruber Sedlmayr; Kurt Schlachter; Eva M Reinthaler; Elisabeth Stogmann; Fritz Zimprich; Emilie Theatre; Colin Smith; Terence J O'Brien; Meng M Tan; Slave Petrovski; Angela Robbiano; Roberta Paravidino; Federico Zara; Pasquale Striano; Michael R Sperling; Russell J Buono; Hakon Hakonarson; Joao Chaves; Paulo P Costa ; Berta M Silva ; Antonio M da Silva ; Pierre N E de Graan; Bobby P C Koeleman; Albert Becker; Susanne Schoch; Marec von Lehe; Philipp S Reif; Felix Rosenow; Felicitas Becker; Yvonne Weber; Holger Lerche; Karl Roessler; Michael Buchfelder; Hajo M Hamer; Katja Kobow; Roland Coras; Ingmar Blumcke; Ingrid E Scheffer; Samuel F Berkovic; Michael E Weale; Norman Delanty; Chantal Depondt; Gianpiero L Cavalleri; Wolfram S Kunz; Sanjay M Sisodiya; ...More
PUBLISHED: 2013, SOURCE: BRAIN, VOLUME: 136, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef

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