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Journal of Clinical Investigation, ISSN 0021-9738, 02/2012, Volume 122, Issue 2, pp. 538 - 544
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2015, Volume 11, Issue 5, p. e1005226
Journal Article
by Steffens, Michael and Leu, Costin and Ruppert, Ann-Kathrin and Zara, Federico and Striano, Pasquale and Robbiano, Angela and Capovilla, Giuseppe and Tinuper, Paolo and Gambardella, Antonio and Bianchi, Amedeo and La neve, Angela and Crichiutti, Giovanni and de kovel, Carolien G.F and Trenité, Dorothée Kasteleijn-Nolst and de haan, Gerrit-Jan and Lindhout, Dick and Gaus, Verena and Schmitz, Bettina and Janz, Dieter and Weber, Yvonne G and Becker, Felicitas and Lerche, Holger and Steinhoff, Bernhard J and Kleefuß-Lie, Ailing A and Kunz, Wolfram S and Surges, Rainer and Elger, Christian E and Muhle, Hiltrud and Von spiczak, Sarah and Ostertag, Philipp and Helbig, Ingo and Stephani, Ulrich and Møller, Rikke S and Hjalgrim, Helle and Dibbens, Leanne M and Bellows, Susannah and Oliver, Karen and Mullen, Saul and Scheffer, Ingrid E and Berkovic, Samuel F and Everett, Kate V and Gardiner, Mark R and Marini, Carla and Guerrini, Renzo and Lehesjoki, Anna-Elina and Siren, Auli and Guipponi, Michel and Malafosse, Alain and Thomas, Pierre and Nabbout, Rima and Baulac, Stephanie and Leguern, Eric and Guerrero, Rosa and Serratosa, Jose M and Reif, Philipp S and Rosenow, Felix and Mörzinger, Martina and Feucht, Martha and Zimprich, Fritz and Kapser, Claudia and Schankin, Christoph J and Suls, Arvid and Smets, Katrin and De jonghe, Peter and Jordanova, Albena and Caglayan, Hande and Yapici, Zuhal and Yalcin, Destina A and Baykan, Betul and Bebek, Nerses and Ozbek, Ugur and Gieger, Christian and Wichmann, Heinz-Erich and Balschun, Tobias and Ellinghaus, David and Franke, Andre and Meesters, Christian and Becker, Tim and Wienker, Thomas F and Hempelmann, Anne and Schulz, Herbert and Rüschendorf, Franz and Leber, Markus and Pauck, Steffen M and Trucks, Holger and Toliat, Mohammad R and Nürnberg, Peter and Avanzini, Giuliano and Koeleman, Bobby P.C and Sander, Thomas and Weckhuysen, Sarah and Claes, Lieve and Deprez, Liesbet and Van Dyck, Tine and Deconinck, Tine and Velizarova, Reana and Dimova, Petya and Radionova, Melania and Tournev, Ivaylo and Kancheva, Dahlia and ... and EMINET Consortium and EPICURE Consortium and EMINet Consortium
Human Molecular Genetics, ISSN 0964-6906, 12/2012, Volume 21, Issue 24, pp. 5359 - 5372
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2019, Volume 90, Issue 4, pp. 490 - 493
Correspondence to Professor Volker Straub, The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic... 
muscular dystrophy | neuromuscular | myopathy | muscle disease | Ethics | Neuromuscular diseases | Biopsy | Genomes | Research | Mutation | Patients | Muscular dystrophy | 1506 | PostScript
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 11/2014, Volume 23, Issue 22, pp. 6069 - 6080
Journal Article
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