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Journal Article
Coppola, Antonietta, Cellini, Elena, Stamberger, Hannah, Saarentaus, Elmo ORCID: 0000-0002-8475-7187, Cetica, Valentina, Lal, Dennis, Djemie, Tania, Bartnik-Glaska, Magdalena, Ceulemans, Berten, Cross, J. Helen, Deconinck, Tine, De Masi, Salvatore, Dorn, Thomas, Guerrini, Renzo, Hoffman-Zacharska, Dorotha, Kooy, Frank
ORCID: 0000-0003-2024-0485, Lagae, Lieven, Lench, Nicholas, Lemke, Johannes R., Lucenteforte, Ersilia
ORCID: 0000-0001-5608-5902, Madia, Francesca, Mefford, Heather C., Morrogh, Deborah, Nuernberg, Peter, Palotie, Aarno, Schoonjans, An-Sofie, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Szczepanik, Elzbieta, Tostevin, Anna, Vermeesch, Joris R., Van Esch, Hilde, Van Paesschen, Wim, Waters, Jonathan J., Weckhuysen, Sarah
ORCID: 0000-0003-2878-1147, Zara, Federico, Jonghe, Peter De, Sisodiya, Sanjay M., Marini, Carla, Lehesjioki, Anna-Elina, Craiu, Dana, Talvik, Tiina, Caglayan, Hande, Serratosa, Jose, Sterbova, Katalin, Moller, Rikke S., Hjalgrim, Helle, Lerche, Holger, Weber, Yvonne, Helbig, Ingo, von Spiczak, Sarah, Barba, Carmen, Bogaerts, Anneleen, Boni, Antonella, Galizia, Elisabeth Caruana, Chiari, Sara, Clementella, Claudia, Di Gacomo, Gianpiero, Ferrari, Annarita, Guarducci, Silvia, Giglio, Sabrina
ORCID: 0000-0002-3954-326X, Holmgren, Philip, Leu, Costin, Mari, Francesco, Melani, Federico, Novara, Francesca, Pantaleo, Marilena, Peeters, Elke, Pisano, Tiziana
ORCID: 0000-0001-8920-9078, Rosati, Anna
ORCID: 0000-0002-8754-7214, Sander, Josemir, Schoeler, Natasha
ORCID: 0000-0001-6202-1497, Stankiewicz, Pawel, Striano, Salvatore, Suls, Arvid, Traverso, Monica, Vandeweyer, Geert, Van Dijck, Anke
ORCID: 0000-0002-6713-2943 and Zuffardi, Orsetta
(2019).
Diagnostic implications of genetic copy number variation in epilepsy plus.
Epilepsia, 60 (4).
S. 689 - 707.
HOBOKEN:
WILEY.
ISSN 1528-1167
Niturad, Cristina Elena, Lev, Dorit, Kalscheuer, Vera M., Charzewska, Agnieszka, Schubert, Julian, Lerman-Sagie, Tally, Kroes, Hester Y., Oegema, Renske ORCID: 0000-0002-7146-617X, Traverso, Monica, Specchio, Nicola, Lassota, Maria, Chelly, Jamel, Bennett-Back, Odeya, Carmi, Nirit, Koffler-Brill, Tal, Iacomino, Michele, Trivisano, Marina, Capovilla, Giuseppe, Striano, Pasquale
ORCID: 0000-0002-6065-1476, Nawara, Magdalena, Rzonca, Sylwia, Fischer, Ute, Bienek, Melanie, Jensen, Corinna, Hu, Hao, Thiele, Holger, Altmuller, Janine, Krause, Roland
ORCID: 0000-0001-9938-7126, May, Patrick
ORCID: 0000-0001-8698-3770, Becker, Felicitas, Balling, Rudi
ORCID: 0000-0003-2902-5650, Biskup, Saskia, Haas, Stefan A., Nuernberg, Peter, van Gassen, Koen L. I., Lerche, Holger, Zara, Federico
ORCID: 0000-0001-9744-5222, Maljevic, Snezana
ORCID: 0000-0003-1876-5872 and Leshinsky-Silver, Esther
(2017).
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain, 140.
S. 2879 - 2895.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2156
Vanni, Nicola, Fruscione, Floriana, Ferlazzo, Edoardo, Striano, Pasquale ORCID: 0000-0002-6065-1476, Robbiano, Angela, Traverso, Monica, Sander, Thomas, Falace, Antonio
ORCID: 0000-0001-5336-0251, Gazzerro, Elisabetta, Bramanti, Placido, Bielawski, Jacek, Fassio, Anna, Minetti, Carlo
ORCID: 0000-0002-0640-1804, Genton, Pierre and Zara, Federico
ORCID: 0000-0001-9744-5222
(2014).
Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy.
Ann. Neurol., 76 (2).
S. 206 - 213.
HOBOKEN:
WILEY.
ISSN 1531-8249