학술논문
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'학술논문'
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1~20
Academic Journal
Geert M. deVries; Bob Asselbergh; Alice Monticelli; Peter De Jonghe; Stuart Maudsley; Peter Y. K. Van Den Bergh; Anne Bigot; Jan L. De Bleecker; Biljana Ermanoska; Willem De Ridder; Jonathan Baets
Journal of Cachexia, Sarcopenia and Muscle, Vol 16, Iss 3, Pp n/a-n/a (2025)
Academic Journal
Berkovic, Samuel F.; Neale, Benjamin M.; Zsurka, Gábor; Zizovic, Milena; Zimprich, Fritz; Zara, Federico; Zahnert, Felix; Zagaglia, Sara; Yücesan, Emrah; Yolken, Robert; Yis, Uluc; Yapıcı, Zuhal; Yamakawa, Kazuhiro; Wu, David; von Wrede, Randi; Wong, Isaac; Wolking, Stefan; Wolff, Markus; Wolf, Steven M.; Wiebe, Samuel; Widdess-Walsh, Peter; Weckhuysen, Sarah; Weber, Yvonne G.; Watts, Nick; Wagner, Ryan G.; von Spiczak, Sarah; von Brauchitsch, Sophie; Vlčková, Markéta; Vetro, Annalisa; Vari, Maria Stella; van Baalen, Andreas; Valton, Luc; Vaidiswaran, Priya; Utkus, Algirdas; Uğur-İşeri, Sibel; Turkdogan, Dilsad; Tumiene, Birute; Tsai, Meng-Han; Topaloglu, Pınar; Todaro, Marian; Tinuper, Paolo; Timpson, Nicholas John; Timonen, Oskari; Tanteles, George A.; Taneja, Randip S.; Talkowski, Michael E.; Talarico, Mariagrazia; Suzuki, Toshimitsu; Surges, Rainer; Strzelczyk, Adam; Striano, Pasquale; Stipa, Carlotta; Stewart, William C.; Štěrbová, Katalin; Stephani, Ulrich; Steinhoff, Bernhard J.; Stamberger, Hannah; Sperling, Michael R.; Sparks, Kathryn R.; Spalletta, Gianfranco; Solomonson, Matthew; Smoller, Jordan W.; Sisodiya, Sanjay M.; Sills, Graeme J.; Siena, S. Anthony; Shiedley, Beth R.; Sham, Pak C.; Shain, Catherine; Sedláčková, Lucie; Scudieri, Paolo; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schneider, Natascha; Scheffer, Ingrid E.; Schankin, Christoph J.; Schaller, André; Schachter, Steven; Scala, Marcello; Sammarra, Ilaria; Salpietro, Vincenzo; Salmon, Andrea; Salman, Barış; Sadleir, Lynette G.; Saarela, Anni; Ryvlin, Philippe; Rosenow, Felix; Rojas, Enrique; Riva, Antonella; Ring, Susan M.; Rheims, Sylvain; Reinthaler, Eva; Reif, Andreas; Regan, Brigid M.; Rees, Mark I.; Raynes, Hillary R.; Rau, Sarah; Ramirez-Hamouz, Byron; Ragona, Francesca; Rademacher, Annika; Privitera, Michael; Powell, Robert H. W.; Posthuma, Danielle; Pondrelli, Federica; Poduri, Annapurna; Piras, Federica; Piras, Fabrizio; Pippucci, Tommaso; Pinto, Dalila; Pinsky, Rebecca; Pickrell, William O.; Petrovski, Slavé; Pennell, Page B.; Pendziwiat, Manuela; Pato, Michele; Pato, Carlos; Parrini, Elena; Papacostas, Savvas S.; Palotie, Aarno; Özkara, Çiğdem; Owusu-Agyei, Seth; O’Brien, Terence J.; Novod, Sam; Northstone, Kate; Noebels, Jeffrey L.; Newton, Charles R. J. C.; Neubauer, Bernd A.; Neaves, Samuel; Nasreddine, Wassim; Najm, Imad M.; Müller-Schlüter, Karen; Muhle, Hiltrud; Muccioli, Lorenzo; Mostacci, Barbara; Montomoli, Martino; Minardi, Raffaella; Millichap, John J.; Michel, Véronique; Mei, Davide; Meador, Kimford J.; McQuillan, Andrew; McIntosh, Andrew; McGraw, Christopher M.; McGoldrick, Patricia; McCarroll, Steven M.; McArdle, Wendy; Mayer, Thomas; May, Patrick; Matthews, Abigail G.; Marson, Anthony G.; Marques, Paula; Marcuse, Lara; Maillard, Louis; Magri, Stefania; Madia, Francesca; Madeleyn, Rene; Macedo-Souza, Lucia Inês; Lui, Colin H. T.; Lubbers, Laura; Lowther, Chelsea; Lowenstein, Daniel H.; Lo, Warren; Linnankivi, Tarja; Lin, Kuang-Lin; Lin, Chih-Hsiang; Licchetta, Laura; Liao, Calwing; Li, Gloria Hoi-Yee; Lewis-Smith, David; Lewin, Naomi; Leu, Costin; Lesca, Gaetan; Lerche, Holger; Lemke, Johannes R.; Lehesjoki, Anna-Elina; Leech, Stephanie L.; Lawthom, Charlotte; Lauxmann, Stephan; Laššuthová, Petra; Lal, Dennis; Lacey, Austin; Labate, Angelo; Vega-Talbott, Maite La; Kwan, Patrick; Kuzniecky, Ruben I.; Kurlemann, Gerhard; Kunz, Wolfram S.; Krey, Ilona; Krestel, Heinz; Krenn, Martin; Krause, Roland; Kousiappa, Ioanna; Koupparis, Andreas; Korinthenberg, Rudolf; Korczyn, Amos D.; Kok, Fernando; Knake, Susanne; Kluger, Gerhard; Klein, Karl Martin; King, Chontelle; Khoury, Jean; Khoueiry-Zgheib, Nathalie; Kesim, Yeşim; Kegele, Josua; Kariuki, Symon M.; Kara, Bulent; Kanaan, Moien; Kälviäinen, Reetta; Johnstone, Mandy; Johnson, Michael R.; Jehi, Lara; Ishii, Atsushi; Inuzuka, Luciana Midori; Inoue, Yushi; Iacomino, Michele; Hung, Po-Chen; Hucks, Donald; Howrigan, Daniel P.; Hoeper, Olivia; Ho, Chen-Jui; Hirsch, Edouard; Hirose, Shinichi; Heyne, Henrike; Hengsbach, Christian; Helbig, Ingo; Heinzen, Erin L.; Hegde, Manu; Häusler, Martin; Haryanyan, Garen; Hakonarson, Hakon; Haas, Kevin; Gupta, Namrata; Gundogdu-Eken, Aslı; Guerrini, Renzo; Greenberg, David A.; Grant, Riley; Granata, Tiziana; Goldstein, David B.; Goldman, Alica; Goldberg, Ethan; Glauser, Tracy A.; Gili, Tommaso; Giangregorio, Tania; Gauthier, Laura; Gambardella, Antonio; Gagliardi, Monica; Gabriel, Stacey; Fu, Jack M.; Freri, Elena; French, Jacqueline A.; Franceschetti, Silvana; Fortunato, Francesco; Fonferko-Shadrach, Beata; Fitzgerald, Mark; Fields, Madeline C.; Feucht, Martha; Ferri, Lorenzo; Silva, Izabela Ferreira Da; Ferraro, Thomas N.; Ferguson, Lisa; Feng, Yen-Chen Anne; Faucon, Annika; Evans, Meghan; Epstein, Leon; Ellis, Colin A.; El-Naggar, Hany; Doherty, Colin P.; Doccini, Viola; Dlugos, Dennis J.; Dickerson, Faith; Vito, Lidia Di; Devinsky, Orrin; Derambure, Philippe; Depondt, Chantal; Dennig, Dieter; Delanty, Norman; Jonghe, Peter De; Davis, Lea K.; Daly, Mark J.; Cusick, Caroline; Cotsapas, Chris; Cossette, Patrick; Cosico, Mahgenn; Cole, Andrew J.; Clark, Peggy O.; Ciullo, Valentina; Churchhouse, Claire; Chung, Seo-Kyung; Chou, I-Jun; Cheung, Ching-Lung; Cherny, Stacey S.; Cherian, Christina; Chassoux, Francine; Cerrato, Felecia; Cavalleri, Gianpiero L.; Castellotti, Barbara; Canavati, Christina; Canafoglia, Laura; Caglayan, S. Hande; Busch, Robyn M.; Buono, Russell J.; Brockmann, Knut; Brand, Harrison; Braatz, Vera; Bosselmann, Christian; Borggräfe, Ingo; Blatt, Ilan; Blackwood, Douglas; Bisulli, Francesca; Bianchini, Claudia; Beydoun, Ahmad; Bennett, Caitlin A.; Becker, Felicitas; Bebek, Nerses; Baykan, Betül; Baumgartner, Tobias H.; Baum, Larry W.; Bass, Nick; Bartolomei, Fabrice; Barboza, Karen; Barba, Carmen; Banks, Eric; Balestrini, Simona; Balagura, Ganna; Baker, Mark D.; Bahlo, Melanie; Auce, Pauls; Arslan, Mutluay; Annesi, Grazia; Andrade, Danielle M.; Anderson, Joe; Anderson, Alison; Amadori, Elisabetta; Ali, Quratulain Zulfiqar; Afawi, Zaid; Abou-Khalil, Bassel W.; Chen, Siwei
Nature Neuroscience. 27(10):1864-1879
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Academic Journal
Sabrina Ehnert; Stefan Hauser; Holger Hengel; Philip Höflinger; Rebecca Schüle; Tobias Lindig; Jonathan Baets; Tine Deconinck; Peter de Jonghe; Tina Histing; Andreas K. Nüssler; Ludger Schöls; Tim W. Rattay
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Academic Journal
Steward, Charles A; Roovers, Jolien; Suner, Marie-Marthe; Gonzalez, Jose M; Uszczynska-Ratajczak, Barbara; Pervouchine, Dmitri; Fitzgerald, Stephen; Viola, Margarida; Stamberger, Hannah; Hamdan, Fadi F; Ceulemans, Berten; Leroy, Patricia; Nava, Caroline; Lepine, Anne; Tapanari, Electra; Keiller, Don; Abbs, Stephen; Sanchis-Juan, Alba; Grozeva, Detelina; Rogers, Anthony S; Diekhans, Mark; Guigó, Roderic; Petryszak, Robert; Minassian, Berge A; Cavalleri, Gianpiero; Vitsios, Dimitrios; Petrovski, Slavé; Harrow, Jennifer; Flicek, Paul; Lucy Raymond, F; Lench, Nicholas J; Jonghe, Peter De; Mudge, Jonathan M; Weckhuysen, Sarah; Sisodiya, Sanjay M; Frankish, Adam
NPJ Genom Med
Recercat. Dipósitde la Recerca de Catalunya
instname
Npj genomic medicine
Recercat. Dipósit
instname
Npj genomic medicine
Academic Journal
Iruzubieta, Pablo; Verdú-Díaz, José; Töpf, Ana; Luce, Leonela; Claeys, Kristl G.; De Ridder, Willem; González-Quereda, Lidia; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Poza, Juan José; Zulaica, Miren; de Jonghe, Peter; Duff, Jennifer; Mroczek, Magdalena; Martín-Jiménez, Paloma; Hernández-Laín, Aurelio; Domínguez-González, Cristina; Baets, Jonathan; Gallano, Pia; Díaz-Manera, Jordi; Straub, Volker; López de Munain, Adolfo; Fernandez-Torron, Roberto
Journal of Neurology. 272(2)
Academic Journal
Synofzik, Matthis; Helbig, Katherine L.; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G. Bradley; Gburek-Augustat, Janina; Züchner, Stephan; Krägeloh-Mann, Ingeborg; Baets, Jonathan; de Jonghe, Peter; Bauer, Peter; Chen, S. R. Wayne; Schöls, Ludger; Schüle, Rebecca
European Journal of Human Genetics. 26(11):1623-1634
Academic Journal
Heyne, Henrike O.; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Guerrini, Renzo; Helbig, Katherine L.; Koeleman, Bobby P. C.; Kosmicki, Jack A.; Linnankivi, Tarja; May, Patrick; Muhle, Hiltrud; Møller, Rikke S.; Neubauer, Bernd A.; Palotie, Aarno; Pendziwiat, Manuela; Striano, Pasquale; Tang, Sha; Wu, Sitao; EuroEPINOMICS RES Consortium; Poduri, Annapurna; Weber, Yvonne G.; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Daly, Mark J.; Helbig, Ingo; Lal, Dennis; Lemke, Johannes R.
Nature Genetics. 50(7):1048-1053
Academic Journal
Helbig, Ingo; Lopez-Hernandez, Tania; Shor, Oded; Galer, Peter; Ganesan, Shiva; Pendziwiat, Manuela; Rademacher, Annika; Ellis, Colin; Hümpfer, Nadja; Schwarz, Niklas; Seiffert, Simone; Peeden, Joseph; Shen, Joseph; Štěrbová, Katalin; Hammer, Trine Bjørg; Møller, Rikke; Shinde, Deepali; Tang, Sha; Smith, Lacey; Poduri, Annapurna; Krause, Roland; Benninger, Felix; Helbig, Katherine; Haucke, Volker; Weber, Yvonne; Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; de Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, Sek Won; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter; Jonghe, Peter De; Lemke, Johannes R.; Pal, Deb K.; Serratosa, Jose M.; Spiczak, Sarah Von; Mandl, Kenneth D.
Helbig, I, Lopez-Hernandez, T, Shor, O, Galer, P, Ganesan, S, Pendziwiat, M, Rademacher, A, Ellis, C A, Hümpfer, N, Schwarz, N, Seiffert, S, Peeden, J, Shen, J, Štěrbová, K, Hammer, T B, Møller, R S, Shinde, D N, Tang, S, Smith, L, Poduri, A, Krause, R, Benninger, F, Helbig, K L, Haucke, V, Weber, Y G, Balling, R, Barisic, N, Baulac, S, Caglayan, H, Craiu, D, De Jonghe , P, Depienne, C, Guerrini, R, Hjalgrim, H, Hoffman-Zacharska, D, Jähn, J, Klein, K M, Koeleman, B P C, Komarek, V, Leguern, E, Lehesjoki, A E, Lemke, J R, Lerche, H, Linnankivi, T, Marini, C, May, P, Muhle, H, Pal, D K, Palotie, A, Rosenow, F, the EuroEPINOMICS-RES Consortium & the GRIN Consortium 2019, ' A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy ', American Journal of Human Genetics, vol. 104, no. 6, pp. 1060-1072 . https://doi.org/10.1016/j.ajhg.2019.04.001
American Journal of Human Genetics, vol 104, iss 6
American Journal of Human Genetics, vol 104, iss 6
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
May, Patrick; Girard, Simon; Harrer, Merle; Bobbili, Dheeraj R; Schubert, Julian; Wolking, Stefan; Becker, Felicitas; Lachance-Touchette, Pamela; Meloche, Caroline; Gravel, Micheline; Niturad, Cristina E; Knaus, Julia; De Kovel, Carolien; Toliat, Mohamad; Polvi, Anne; Iacomino, Michele; Guerrero-López, Rosa; Baulac, Stéphanie; Marini, Carla; Thiele, Holger; Altmüller, Janine; Jabbari, Kamel; Ruppert, Ann-Kathrin; Jurkowski, Wiktor; Lal, Dennis; Rusconi, Raffaella; Cestèle, Sandrine; Terragni, Benedetta; Coombs, Ian D; Reid, Christopher A; Striano, Pasquale; Caglayan, Hande; Siren, Auli; Everett, Kate; Møller, Rikke S; Hjalgrim, Helle; Muhle, Hiltrud; Helbig, Ingo; Kunz, Wolfram S; Weber, Yvonne G; Weckhuysen, Sarah; De Jonghe, Peter; Sisodiya, Sanjay M; Nabbout, Rima; Franceschetti, Silvana; Coppola, Antonietta; Vari, Maria S; Kasteleijn-Nolst Trenité, Dorothée; Baykan, Betul; Ozbek, Ugur; Bebek, Nerses; Klein, Karl M; Rosenow, Felix; Nguyen, Dang K; Dubeau, François; Carmant, Lionel; Lortie, Anne; Desbiens, Richard; Clément, Jean-François; Cieuta-Walti, Cécile; Sills, Graeme J; Auce, Pauls; Francis, Ben; Johnson, Michael R; Marson, Anthony G; Berghuis, Bianca; Sander, Josemir W; Avbersek, Andreja; McCormack, Mark; Cavalleri, Gianpiero L; Delanty, Norman; Depondt, Chantal; Krenn, Martin; Zimprich, Fritz; Peter, Sarah; Nikanorova, Marina; Kraaij, Robert; van Rooij, Jeroen; Balling, Rudi; Arfan Ikram, M; Uitterlinden, André G; Avanzini, Giuliano; Schorge, Stephanie; Petrou, Steven; Mantegazza, Massimo; Sander, Thomas; LeGuern, Eric; Serratosa, Jose M; Koeleman, Bobby P C; Palotie, Aarno; Lehesjoki, Anna-Elina; Nothnagel, Michael; Nürnberg, Peter; Maljevic, Snezana; Zara, Federico; Cossette, Patrick; Krause, Roland; Lerche, Holger; Ferlazzo, Edoardo; di Bonaventura, Carlo; La Neve, Angela; Tinuper, Paolo; Bisulli, Francesca; Vignoli, Aglaia; Capovilla, Giuseppe; Crichiutti, Giovanni; Gambardella, Antonio; Belcastro, Vincenzo; Bianchi, Amedeo; Yalçın, Destina; Dizdarer, Gulsen; Arslan, Kezban; Yapıcı, Zuhal; Kuşcu, Demet; Leu, Costin; Heggeli, Kristin; Willis, Joseph; Langley, Sarah R; Jorgensen, Andrea; Srivastava, Prashant; Rau, Sarah; Hengsbach, Christian; Sonsma, Anja C.M.; Jonghe, Peter De; Ikram, M Arfan
In The Lancet Neurology August 2018 17(8):699-708
Academic Journal
Dennis Lal; Patrick May; Eduardo Perez-Palma; Kaitlin E. Samocha; Jack A. Kosmicki; Elise B. Robinson; Rikke S. Møller; Roland Krause; Peter Nürnberg; Sarah Weckhuysen; Peter De Jonghe; Renzo Guerrini; Lisa M. Niestroj; Juliana Du; Carla Marini; EuroEPINOMICS-RES Consortium; James S. Ware; Mitja Kurki; Padhraig Gormley; Sha Tang; Sitao Wu; Saskia Biskup; Annapurna Poduri; Bernd A. Neubauer; Bobby P. C. Koeleman; Katherine L. Helbig; Yvonne G. Weber; Ingo Helbig; Amit R. Majithia; Aarno Palotie; Mark J. Daly
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Academic Journal
Manivannan, Sathiya N; Roovers, Jolien; Smal, Noor; Myers, Candace T; Turkdogan, Dilsad; Roelens, Filip; Kanca, Oguz; Chung, Hyung-Lok; Scholz, Tasja; Hermann, Katharina; Bierhals, Tatjana; Caglayan, Hande S; Stamberger, Hannah; Consortium, MAE Working Group of EuroEPINOMICS RES; Mefford, Heather; Jonghe, Peter de; Yamamoto, Shinya; Weckhuysen, Sarah; Bellen, Hugo J; de Jonghe, Peter
Academic Journal
Julie van der Zee; Lubina Dillen; Yalda Baradaran-Heravi; Helena Gossye; Cemile Koçoğlu; Ivy Cuyt; Bart Dermaut; Anne Sieben; Jonathan Baets; Peter De Jonghe; Rik Vandenberghe; Peter De Deyn; Patrick Cras; Sebastiaan Engelborghs; Christine Van Broeckhoven
Neurobiology of Disease, Vol 156, Iss , Pp 105421- (2021)
Academic Journal
Andreas Traschütz; Selina Reich; Astrid D. Adarmes; Mathieu Anheim; Mahmoud Reza Ashrafi; Jonathan Baets; A. Nazli Basak; Enrico Bertini; Bernard Brais; Cynthia Gagnon; Janina Gburek-Augustat; Hasmet A. Hanagasi; Anna Heinzmann; Rita Horvath; Peter de Jonghe; Christoph Kamm; Peter Klivenyi; Thomas Klopstock; Martina Minnerop; Alexander Münchau; Mathilde Renaud; Richard H. Roxburgh; Filippo M. Santorelli; Tommaso Schirinzi; Deborah A. Sival; Dagmar Timmann; Stefan Vielhaber; Michael Wallner; Bart P. van de Warrenburg; Ginevra Zanni; Stephan Zuchner; Thomas Klockgether; Rebecca Schüle; Ludger Schöls; PREPARE Consortium; Matthis Synofzik
Frontiers in Neurology, Vol 12 (2021)
Academic Journal
Danique Beijer; Hong Joo Kim; Lin Guo; Kevin O’Donovan; Inès Mademan; Tine Deconinck; Kristof Van Schil; Charlotte M. Fare; Lauren E. Drake; Alice F. Ford; Andrzej Kochański; Dagmara Kabzińska; Nicolas Dubuisson; Peter Van den Bergh; Nicol C. Voermans; Richard J.L.F. Lemmers; Silvère M. van der Maarel; Devon Bonner; Jacinda B. Sampson; Matthew T. Wheeler; Anahit Mehrabyan; Steven Palmer; Peter De Jonghe; James Shorter; J. Paul Taylor; Jonathan Baets
JCI Insight, Vol 6, Iss 14 (2021)
Academic Journal
Suzuki, Masashi; Van Paesschen, Wim; Stalmans, Ingeborg; Horita, Shoko; Yamada, Hideomi; Bergmans, Bruno A.; Legius, Eric; Riant, Florence; De Jonghe, Peter; Li, Yuehong; Sekine, Takashi; Igarashi, Takashi; Fujimoto, Ichiro; Mikoshiba, Katsuhiko; Shimadzu, Mitsunobu; Shiohara, Masaaki; Braverman, Nancy; Al-Gazali, Lihadh; Fujita, Toshiro; Seki, George; Welsh, Michael J.
Proceedings of the National Academy of Sciences of the United States of America, 2010 Sep 01. 107(36), 15963-15968.
Academic Journal
Aleksandra Siekierska; Hannah Stamberger; Tine Deconinck; Stephanie N. Oprescu; Michèle Partoens; Yifan Zhang; Jo Sourbron; Elias Adriaenssens; Patrick Mullen; Patrick Wiencek; Katia Hardies; Jeong-Soo Lee; Hoi-Khoanh Giong; Felix Distelmaier; Orly Elpeleg; Katherine L. Helbig; Joseph Hersh; Sedat Isikay; Elizabeth Jordan; Ender Karaca; Angela Kecskes; James R. Lupski; Reka Kovacs-Nagy; Patrick May; Vinodh Narayanan; Manuela Pendziwiat; Keri Ramsey; Sampathkumar Rangasamy; Deepali N. Shinde; Ronen Spiegel; Vincent Timmerman; Sarah von Spiczak; Ingo Helbig; C4RCD Research Group; AR working group of the EuroEPINOMICS RES Consortium; Sarah Weckhuysen; Christopher Francklyn; Anthony Antonellis; Peter de Witte; Peter De Jonghe
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Academic Journal
Lukas J. Schnitzler; Tobias Schreckenbach; Aleksandra Nadaj-Pakleza; Werner Stenzel; Elisabeth J. Rushing; Philip Van Damme; Andreas Ferbert; Susanne Petri; Christian Hartmann; Antje Bornemann; Andreas Meisel; Jens A. Petersen; Thomas Tousseyn; Dietmar R. Thal; Jens Reimann; Peter De Jonghe; Jean-Jacques Martin; Peter Y. Van den Bergh; Jörg B. Schulz; Joachim Weis; Kristl G. Claeys
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Academic Journal
Celia Zazo Seco; Anna Castells-Nobau; Seol-hee Joo; Margit Schraders; Jia Nee Foo; Monique van der Voet; S. Sendhil Velan; Bonnie Nijhof; Jaap Oostrik; Erik de Vrieze; Radoslaw Katana; Atika Mansoor; Martijn Huynen; Radek Szklarczyk; Martin Oti; Lisbeth Tranebjærg; Erwin van Wijk; Jolanda M. Scheffer-de Gooyert; Saadat Siddique; Jonathan Baets; Peter de Jonghe; Syed Ali Raza Kazmi; Suresh Anand Sadananthan; Bart P. van de Warrenburg; Chiea Chuen Khor; Martin C. Göpfert; Raheel Qamar; Annette Schenck; Hannie Kremer; Saima Siddiqi
Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)
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