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Movimento (Porto Alegre, Brazil), 2021, Vol.27
2021
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Epilepsy research, 2011-09, Vol.96 (1), p.39-44
2011
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Epilepsia (Copenhagen), 2011-08, Vol.52 (8), p.1388-1392
2011
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Journal of inborn errors of metabolism and screening, 2017-09, Vol.5
2017
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Ophthalmology (Rochester, Minn.), 2021-05, Vol.128 (5), p.649-660
- Newman, Nancy J.
- Yu-Wai-Man, Patrick
- Carelli, Valerio
- Moster, Mark L.
- Biousse, Valerie
- Vignal-Clermont, Catherine
- Sergott, Robert C.
- Klopstock, Thomas
- Sadun, Alfredo A.
- Barboni, Piero
- DeBusk, Adam A.
- Girmens, Jean François
- Rudolph, Günther
- Karanjia, Rustum
- Taiel, Magali
- Blouin, Laure
- Smits, Gerard
- Katz, Barrett
- Sahel, José-Alain
- Vignal, Catherine
- Hage, Rabih
- Catarino, Claudia B.
- Priglinger, Claudia
- Priglinger, Siegfried
- Thurau, Stephan
- von Livonius, Bettina
- Muth, Daniel
- Wolf, Armin
- Al-Tamami, Jasmina
- Pressler, Angelika
- Schertler, Cosima
- Hildebrandt, Martin
- Neuenhahn, Michael
- Heilweil, Gad
- Tsui, Irena
- Hubbard, G. Baker
- Hendrick, Andrew
- Dattilo, Michael
- Peragallo, Jason
- Hawy, Eman
- DuBois, Med, Lindreth
- Gibbs, Deborah
- Filho, Alcides Fernandes
- Dobbs, Jannah
- Carbonelli, Michele
- Di Vito, Lidia
- Contin, Manuela
- Mohamed, Susan
- La Morgia, Chiara
- Silvestri, Sara
- Acheson, James
- Eleftheriadou, Maria
- Esposti, Simona
- Gemenetzi, Maria
- Leitch-Devlin, Lauren
- Tucker, William R.
- Jurkute, Neringa
- SantaMaria, Melissa
- Tollis, Heather
- Haller, Julie A.
- Massini, Maria
2021
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European journal of medical genetics, 2012-05, Vol.55 (5), p.338-341
2012
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British journal of ophthalmology, 2023-07, Vol.107 (7), p.1031
2023
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The Journal of clinical investigation, 2021-03, Vol.131 (6), p.1-12
- Stenton, Sarah L
- Sheremet, Natalia L
- Catarino, Claudia B
- Andreeva, Natalia A
- Assouline, Zahra
- Barboni, Piero
- Barel, Ortal
- Berutti, Riccardo
- Bychkov, Igor
- Caporali, Leonardo
- Capristo, Mariantonietta
- Carbonelli, Michele
- Cascavilla, Maria L
- Charbel Issa, Peter
- Freisinger, Peter
- Gerber, Sylvie
- Ghezzi, Daniele
- Graf, Elisabeth
- Heidler, Juliana
- Hempel, Maja
- Heon, Elise
- Itkis, Yulya S
- Javasky, Elisheva
- Kaplan, Josseline
- Kopajtich, Robert
- Kornblum, Cornelia
- Kovacs-Nagy, Reka
- Krylova, Tatiana D
- Kunz, Wolfram S
- La Morgia, Chiara
- Lamperti, Costanza
- Ludwig, Christina
- Malacarne, Pedro F
- Maresca, Alessandra
- Mayr, Johannes A
- Meisterknecht, Jana
- Nevinitsyna, Tatiana A
- Palombo, Flavia
- Pode-Shakked, Ben
- Shmelkova, Maria S
- Strom, Tim M
- Tagliavini, Francesca
- Tzadok, Michal
- van der Ven, Amelie T
- Vignal-Clermont, Catherine
- Wagner, Matias
- Zakharova, Ekaterina Y
- Zhorzholadze, Nino V
- Rozet, Jean-Michel
- Carelli, Valerio
- Tsygankova, Polina G
- Klopstock, Thomas
- Wittig, Ilka
- Prokisch, Holger
2021
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Lancet neurology, 2014-09, Vol.13 (9), p.893-903
2014
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Nature genetics, 2023-09, Vol.55 (9), p.1471-1482
- Chen, Siwei
- Adesoji, Oluyomi M.
- Amadori, Elisabetta
- Annesi, Grazia
- Bahlo, Melanie
- Baker, Mark D.
- Baum, Larry
- Baykan, Betül
- Berkovic, Samuel F.
- Beydoun, Ahmad
- Braatz, Vera
- Buono, Russell J.
- Busch, Robyn M.
- Canavati, Christina
- Castellotti, Barbara
- Chou, I-Jun
- Clark, Peggy O.
- Compston, Alastair
- Coppola, Antonietta
- Cosico, Mahgenn
- Delanty, Norman
- Depondt, Chantal
- Derambure, Philippe
- Di Vito, Lidia
- Dlugos, Dennis J.
- Elger, Christian E.
- Ferraro, Thomas N.
- Fortunato, Francesco
- Freri, Elena
- Gambardella, Antonio
- Goldberg, Ethan
- Gupta, Namrata
- Hakonarson, Hakon
- Hegde, Manu
- Hirsch, Edouard
- Hjalgrim, Helle
- Howrigan, Daniel P.
- Ishii, Atsushi
- Jamnadas-Khoda, Jennifer
- Kanai, Masahiro
- Kantanen, Anne-Mari
- Kariuki, Symon M.
- Kato, Mitsuhiro
- Kesim, Yeşim
- Klein, Karl M.
- Krestel, Heinz
- Kwan, Patrick
- Lau, Yu-Lung
- Leech, Stephanie L.
- Lehesjoki, Anna-Elina
- Leu, Costin
- Li, Gloria H.-Y.
- Licchetta, Laura
- Lin, Kuang-Lin
- Lopes-Cendes, Iscia
- McGraw, Christopher M.
- Mills, James L.
- Minardi, Raffaella
- Mostacci, Barbara
- Najm, Imad M.
- Neale, Benjamin M.
- Nothnagel, Michael
- Özkara, Çiğdem
- Palotie, Aarno
- Papacostas, Savvas S.
- Pickrell, William O.
- Pinsky, Rebecca
- Pippucci, Tommaso
- Poduri, Annapurna
- Pondrelli, Federica
- Privitera, Michael
- Rademacher, Annika
- Ragona, Francesca
- Rhelms, Sylvain
- Sadleir, Lynette G.
- Scala, Marcello
- Scattergood, Theresa
- Schankin, Christoph J.
- Schulze-Bonhage, Andreas
- Sham, Pak
- Stefansson, Hreinn
- Stewart, William C.
- Stipa, Carlotta
- Stroink, Hans
- Strzelczyk, Adam
- Suzuki, Toshimitsu
- Thomas, Rhys H.
- Tinuper, Paolo
- Unnsteinsdóttir, Unnur
- Valton, Luc
- Vetro, Annalisa
- Weckhuysen, Sarah
- Wolking, Stefan
- Wu, David
- Yang, Wanling
- Yücesan, Emrah
- Zagaglia, Sara
- Zhou, Wei
- Zsurka, Gábor
- Zulfiqar Ali, Quratulain
2023
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European journal of neurology, 2023-08, Vol.30 (8), p.2525-2533
2023
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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
- Blickhäuser, Beryll
- Stenton, Sarah L
- Neuhofer, Christiane M
- Floride, Elisa
- Nesbitt, Victoria
- Fratter, Carl
- Koch, Johannes
- Kauffmann, Birgit
- Catarino, Claudia
- Schlieben, Lea Dewi
- Kopajtich, Robert
- Carelli, Valerio
- Sadun, Alfredo A
- McFarland, Robert
- Fang, Fang
- La Morgia, Chiara
- Paquay, Stéphanie
- Nassogne, Marie Cécile
- Ghezzi, Daniele
- Lamperti, Costanza
- Wortmann, Saskia
- Poulton, Jo
- Klopstock, Thomas
- Prokisch, Holger
2024
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Practical Neurology, 2010-08, Vol.10 (4), p.233-236
2010
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Epilepsia (Copenhagen), 2011-01, Vol.52 (1), p.10-21
2011
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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
- Kasperavičiūtė, Dalia
- Catarino, Claudia B
- Matarin, Mar
- Leu, Costin
- Novy, Jan
- Tostevin, Anna
- Leal, Bárbara
- Hessel, Ellen V. S
- Hallmann, Kerstin
- Hildebrand, Michael S
- Dahl, Hans-Henrik M
- Ryten, Mina
- Trabzuni, Daniah
- Ramasamy, Adaikalavan
- Alhusaini, Saud
- Doherty, Colin P
- Dorn, Thomas
- Hansen, Jörg
- Krämer, Günter
- Steinhoff, Bernhard J
- Zumsteg, Dominik
- Duncan, Susan
- Kälviäinen, Reetta K
- Eriksson, Kai J
- Kantanen, Anne-Mari
- Pandolfo, Massimo
- Gruber-Sedlmayr, Ursula
- Schlachter, Kurt
- Reinthaler, Eva M
- Stogmann, Elisabeth
- Zimprich, Fritz
- Théâtre, Emilie
- Smith, Colin
- O’Brien, Terence J
- Meng Tan, K
- Petrovski, Slave
- Robbiano, Angela
- Paravidino, Roberta
- Zara, Federico
- Striano, Pasquale
- Sperling, Michael R
- Buono, Russell J
- Hakonarson, Hakon
- Chaves, João
- Costa, Paulo P
- Silva, Berta M
- da Silva, António M
- de Graan, Pierre N. E
- Koeleman, Bobby P. C
- Becker, Albert
- Schoch, Susanne
- von Lehe, Marec
- Reif, Philipp S
- Rosenow, Felix
- Becker, Felicitas
- Weber, Yvonne
- Lerche, Holger
- Rössler, Karl
- Buchfelder, Michael
- Hamer, Hajo M
- Kobow, Katja
- Coras, Roland
- Blumcke, Ingmar
- Scheffer, Ingrid E
- Berkovic, Samuel F
- Weale, Michael E
- Delanty, Norman
- Depondt, Chantal
- Cavalleri, Gianpiero L
- Kunz, Wolfram S
- Sisodiya, Sanjay M
2013
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Epilepsia (Copenhagen), 2011-04, Vol.52 (s2), p.30-34
2011
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Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.120-120, Article 120
- Repp, Birgit M
- Mastantuono, Elisa
- Alston, Charlotte L
- Schiff, Manuel
- Haack, Tobias B
- Rötig, Agnes
- Ardissone, Anna
- Lombès, Anne
- Catarino, Claudia B
- Diodato, Daria
- Schottmann, Gudrun
- Poulton, Joanna
- Burlina, Alberto
- Jonckheere, An
- Munnich, Arnold
- Rolinski, Boris
- Ghezzi, Daniele
- Rokicki, Dariusz
- Wellesley, Diana
- Martinelli, Diego
- Wenhong, Ding
- Lamantea, Eleonora
- Ostergaard, Elsebet
- Pronicka, Ewa
- Pierre, Germaine
- Smeets, Hubert J M
- Wittig, Ilka
- Scurr, Ingrid
- de Coo, Irenaeus F M
- Moroni, Isabella
- Smet, Joél
- Mayr, Johannes A
- Dai, Lifang
- de Meirleir, Linda
- Schuelke, Markus
- Zeviani, Massimo
- Morscher, Raphael J
- McFarland, Robert
- Seneca, Sara
- Klopstock, Thomas
- Meitinger, Thomas
- Wieland, Thomas
- Strom, Tim M
- Herberg, Ulrike
- Ahting, Uwe
- Sperl, Wolfgang
- Nassogne, Marie-Cecile
- Ling, Han
- Fang, Fang
- Freisinger, Peter
- Van Coster, Rudy
- Strecker, Valentina
- Taylor, Robert W
- Häberle, Johannes
- Vockley, Jerry
- Prokisch, Holger
- Wortmann, Saskia
2018
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Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279)
- La Morgia, Chiara
- Aleo, Serena Jasmine
- Del Dotto, Valentina
- Romagnoli, Martina
- Fiorini, Claudio
- Capirossi, Giada
- Peron, Camille
- Maresca, Alessandra
- Caporali, Leonardo
- Capristo, Mariantonietta
- Tropeano, Concetta Valentina
- Zanna, Claudia
- Ross‐Cisneros, Fred
- Sadun, Alfredo A.
- Pignataro, Maria Gemma
- Giordano, Carla
- Fasano, Chiara
- Porcelli, Anna Maria
- Tioli, Gaia
- Musiani, Francesco
- Catania, Alessia
- Lamperti, Costanza
- Marzoli, Stefania Bianchi
- De Negri, Annamaria
- Cascavilla, Maria Lucia
- Battista, Marco
- Barboni, Piero
- Carbonelli, Michele
- Amore, Giulia
- Smirnov, Dmitrii
- Vasilescu, Catalina
- Farzeen, Aiman
- Blickhäuser, Beryll
- Prokisch, Holger
- Catarino, Claudia
- Klopstock, Thomas
- Tiranti, Valeria
- Carelli, Valerio
- Ghelli, Anna Maria
2024
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Epilepsia (Copenhagen), 2021-07, Vol.62 (7), p.1518-1527
- Smith, Alexander W.
- Carpay, Johannes A.
- Devinsky, Orrin
- Braun, Kees P. J.
- Smit, Dirk J. A.
- Avbersek, Andreja
- Becker, Albert J.
- Berkovic, Samuel F.
- Boysen, Katja E.
- Campbell, Ellen
- Cascino, Gregory D.
- Catarino, Claudia B.
- Chinthapalli, Krishna
- Coffey, Alison J.
- Coppola, Antonietta
- Cossette, Patrick
- De Jonghe, Peter
- Dlugos, Dennis J.
- Feucht, Martha
- Freytag, Saskia
- Geller, Eric B.
- Guo, Youling
- Hakonarson, Hakon
- Haut, Sheryl
- Heinzen, Erin L.
- Hengsbach, Christian
- Johnson, Michael R.
- Kälviäinen, Reetta
- Kirsch, Heidi E.
- Lau, Yu‐Lung
- Lehesjoki, Anna‐Elina
- Lerche, Holger
- Lieb, Wolfgang
- Malovini, Alberto
- McCormack, Mark
- Molloy, Anne M.
- Rau, Sarah
- Schachter, Steven C.
- Vari, Maria S.
- Weber, Yvonne G.
- Weisenberg, Judith
- Wolff, Markus
- Yang, Wanling
- Zara, Federico
- Howrigan, Daniel P.
- Cerrato, Felecia
- Gabriel, Stacey B.
- Daly, Mark J.
- Neale, Benjamin M.
- Lowenstein, Daniel H.
- Cotsapas, Chris
- Petrovski, Slavé
- Sisodiya, Sanjay M.
- Freyer, Catharine
- McKenna, Kevin
- Bennett, Caitlin A.
- Burgess, Rosemary
- O'Brien, Terence J.
- Stamberger, Hannah
- Krestel, Heinz
- Gallati, Sabina
- Papacostas, Savvas S.
- Tanteles, George A.
- Klein, Karl Martin
- Rademacher, Michael
- Afawi, Zaid
- Korczyn, Amos D.
- Kanaan, Moien
- Lemke, Johannes R.
- Wolking, Stefan
- Schulze‐Bonhage, Andreas
- Schubert‐Bast, Susanne
- Korinthenberg, Rudolf
- Dennig, Dieter
- Madeleyn, Rene
- Linnankivi, Tarja
- Rees, Mark I.
- Schneider, Natascha
- Sills, Graeme J.
- Shukralla, Arif
- Canafoglia, Laura
- Franceschetti, Silvana
- Iacomino, Michele
- Stella Vari, Maria
- Salpietro, Vincenzo
- Labate, Angelo
- Manna, Lorella
- Parrini, Elena
- Inoue, Yushi
- Topaloglu, Pınar
- Yücesan, Emrah
- Poduri, Annapurna
- Buono, Russell J.
- Sperling, Michael R.
- Lo, Warren
- Hegde, Manu
- Helbig, Katherine L.
2021
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Clinical neurophysiology, 2016
2016
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Revista Brasileira de Ciências do Esporte, 2019-10, Vol.41 (4), p.343-349
2019
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Conexões (Universidade Estadual de Campinas. Faculdade de Educação Física), 2021-06, Vol.19, p.e021012
2021
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Conexões (Universidade Estadual de Campinas. Faculdade de Educação Física), 2021-06, Vol.19 (1)
2021
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Journal of Inborn Errors of Metabolism and Screening, 2017-09, Vol.5, p.232640981773111
2017
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Motrivivência : revista de educação física, esporte e lazer, 2020-06, Vol.32 (62), p.1-22
2020
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