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by Siekierska, Aleksandra and Stamberger, Hannah and Deconinck, Tine and Oprescu, Stephanie N and Partoens, Michèle and Zhang, Yifan and Sourbron, Jo and Adriaenssens, Elias and Mullen, Patrick and Wiencek, Patrick and Hardies, Katia and Lee, Jeong-Soo and Giong, Hoi-Khoanh and Distelmaier, Felix and Elpeleg, Orly and Helbig, Katherine L and Hersh, Joseph and Isikay, Sedat and Jordan, Elizabeth and Karaca, Ender and Kecskes, Angela and Lupski, James R and Kovacs-Nagy, Reka and May, Patrick and Narayanan, Vinodh and Pendziwiat, Manuela and Ramsey, Keri and Rangasamy, Sampathkumar and Shinde, Deepali N and Spiegel, Ronen and Timmerman, Vincent and von Spiczak, Sarah and Helbig, Ingo and Balak, Chris and Belnap, Newell and Claasen, Ana and Courtright, Amanda and de Both, Matt and Huentelman, Matthew J and Naymik, Marcus and Richholt, Ryan and Siniard, Ashley L and Szelinger, Szabolcs and Craig, David W and Schrauwen, Isabelle and Afawi, Zaid and Balling, Rudi and Baulac, Stéphanie and Barišić, Nina and Caglayan, Hande S and Craiu, Dana and Guerrero-López, Rosa and Guerrini, Renzo and Hjalgrim, Helle and Jähn, Johanna and Klein, Karl Martin and Leguern, Eric and Lemke, Johannes R and Lerche, Holger and Marini, Carla and Møller, Rikke S and Muhle, Hiltrud and Rosenow, Felix and Serratosa, Jose and Suls, Arvid and Stephani, Ulrich and Štěrbová, Katalin and Striano, Pasquale and Zara, Federico and Weckhuysen, Sarah and Francklyn, Christopher and Antonellis, Anthony and de Witte, Peter and De Jonghe, Peter and C4RCD Res Grp and AR Working Grp EuroEPINOMICS RES and AR working group of the EuroEPINOMICS RES Consortium and C4RCD Research Group
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs... 
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
by Allen, Anew S and Berkovic, Samuel F and Bridgers, Joshua and Cossette, Patrick and Dlugos, Dennis and Epstein, Michael P and Glauser, Tracy and Goldstein, David B and Heinzen, Erin L and Jiang, Yu and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Marson, Anthony G and Mefford, Heather C and O'Brien, Terence J and Ottman, Ruth and Petrou, Steven and Petrovski, Slavé and Poduri, Annapurna and Ren, Zhong and Scheffer, Ingrid E and Sherr, Elliott and Wang, Quanli and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna A and Klein, Karl Martin and Koeleman, Bobby|info:eu-repo/dai/nl/157197468 and Komarek, Vladimir and Krause, Roland and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay M and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne G and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alledge, Brian K and Amrom, Dina and Andermann, Eva and Andermann, Frederick and Bautista, Jocelyn F and Bluvstein, Judith and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel E and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Joshi, Sucheta and Kanner, Anes and Kirsch, Heidi E and Kossoff, Eric H and Kuperman, Rachel and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Shellhaas, Renée A and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Thio, Liu Lin and Venkat, Anu and Vining, Eileen P. G and ... and Epi4K Consortium and Epilepsy Phenome Genome Project and EuroEPINOMICS- RES Consortium and EuroEPINOMICS-RES Consortium
European Journal of Human Genetics, ISSN 1018-4813, 06/2017, Volume 25, Issue 7, pp. 894 - 899
Journal Article
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