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Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1624-1631
- Stenton, Sarah L
- Tesarova, Marketa
- Sheremet, Natalia L
- Catarino, Claudia B
- Carelli, Valerio
- Ciara, Elżbieta
- Curry, Kathryn
- Engvall, Martin
- Fleming, Leah R
- Freisinger, Peter
- Iwanicka-Pronicka, Katarzyna
- Jurkiewicz, Elżbieta
- Klopstock, Thomas
- Koenig, Mary K
- Kolářová, Hana
- Kousal, Bohdan
- Krylova, Tatiana
- La Morgia, Chiara
- Nosková, Lenka
- Piekutowska-Abramczuk, Dorota
- Russo, Sam N
- Stránecký, Viktor
- Tóthová, Iveta
- Träisk, Frank
- Prokisch, Holger
2022
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Brain (London, England : 1878), 2012-10, Vol.135 (Pt 10), p.3115-3133
2012
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Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-310, Article 310
2022
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Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.127-127, Article 127
2021
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Molecular therapy. Nucleic acids, 2021-12, Vol.26, p.1186-1197
2021
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Journal of neuro-ophthalmology, 2020-12, Vol.40 (4), p.558-565
- Catarino, Claudia B
- von Livonius, Bettina
- Priglinger, Claudia
- Banik, Rudrani
- Matloob, Selma
- Tamhankar, Madhura A
- Castillo, Lorena
- Friedburg, Christoph
- Halfpenny, Christopher A
- Lincoln, John A
- Traber, Ghislaine L
- Acaroglu, Gölge
- Black, Graeme C M
- Doncel, Carlos
- Fraser, Clare L
- Jakubaszko, Joanna
- Landau, Klara
- Langenegger, Stefan J
- Muñoz-Negrete, Francisco J
- Newman, Nancy J
- Poulton, Joanna
- Scoppettuolo, Elisabetta
- Subramanian, Prem
- Toosy, Ahmed T
- Vidal, Mariona
- Vincent, Andrea L
- Votruba, Marcela
- Zarowski, Marcin
- Zermansky, Adam
- Lob, Felice
- Rudolph, Günther
- Mikazans, Oskars
- Silva, Magda
- Llòria, Xavier
- Metz, Günther
- Klopstock, Thomas
2020
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Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.64-64, Article 64
2021
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Brain (London, England : 1878), 2011-10, Vol.134 (10), p.2969-2981
2011
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Neurobiology of disease, 2014-07, Vol.67, p.88-96
2014
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Brain (London, England : 1878), 2011-10, Vol.134 (10), p.2982-3010
- Catarino, Claudia B
- Liu, Joan Y.W
- Liagkouras, Ioannis
- Gibbons, Vaneesha S
- Labrum, Robyn W
- Ellis, Rachael
- Woodward, Cathy
- Davis, Mary B
- Smith, Shelagh J
- Cross, J. Helen
- Appleton, Richard E
- Yendle, Simone C
- McMahon, Jacinta M
- Bellows, Susannah T
- Jacques, Thomas S
- Zuberi, Sameer M
- Koepp, Matthias J
- Martinian, Lillian
- Scheffer, Ingrid E
- Thom, Maria
- Sisodiya, Sanjay M
2011
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Epilepsia (Copenhagen), 2012-08, Vol.53 (8), p.1349-1359
2012
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Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3187-3199
2013
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PloS one, 2011-08, Vol.6 (8), p.e23182
2011
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Cell reports. Medicine, 2024-02, Vol.5 (2), p.101383-101383, Article 101383
- 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 N.
- Sadun, Alfredo A.
- Pignataro, Maria Gemma
- Giordano, Carla
- Fasano, Chiara
- Cavaliere, Andrea
- 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
- La Morgia, Chiara
- Smirnov, Dmitrii
- Vasilescu, Catalina
- Farzeen, Aiman
- Blickhaeuser, Beryll
- Prokisch, Holger
- Priglinger, Claudia
- Livonius, Bettina
- Catarino, Claudia B.
- Klopstock, Thomas
- Tiranti, Valeria
- Carelli, Valerio
- Ghelli, Anna Maria
2024
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Neurology. Genetics, 2020-10, Vol.6 (5), p.e500-e500
2020
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The Journal of pharmacology and experimental therapeutics, 2010-02, Vol.332 (2), p.599
2010
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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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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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Practical Neurology, 2010-08, Vol.10 (4), p.233-236
2010
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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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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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