학술논문
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'학술논문'
에서 검색결과 1,352건 | 목록
1~20
Academic Journal
Jonathan De Winter; Liedewei Van de Vondel; Kristof Van Schil; Tine Deconinck; Katrien Storm; Karine Geens; Charlotte Sommeling; David Crosiers; Emke Marechal; Willem De Ridder; Peter De Jonghe; Jonathan Baets
Movement disorders: video, videotape supplements
Academic Journal
Karim, Marwah; Mishra, Manjari; Lo, Chieh-Wen; Saul, Sirle; Cagirici, Halise Busra; Gourdelier, Manon; Ghita, Luca; Ojha, Amrita; Tran, Do Hoang Nhu; Agrawal, Aditi; McGraw, Connor; East, Michael P.; Gammeltoft, Karen Anbro; Sahoo, Malaya Kumar; Mooney, Nancie A.; Johnson, Gary L.; Das, Soumita; Leyssen, Pieter; Neyts, Johan; Chiu, Winston; Cohen, Courtney A.; Bukh, Jens; Gottwein, Judith; Dye, John M.; Neff, Norma; Jackson, Peter K.; Pinsky, Benjamin A.; Laitinen, Tuomo; Pantsar, Tatu; Poso, Antti; Zanini, Fabio; De Jonghe, Steven; Asquith, Christopher R. M.; Einav, Shirit
Nature Communications. 16(1)
Academic Journal
Van Damme, Ellen; Abeywickrema, Pravien; Yin, Yanting; Xie, Jiexiong; Jacobs, Sofie; Mann, Mandeep Kaur; Doijen, Jordi; Miller, Robyn; Piassek, Madison; Marsili, Simone; Subramanian, Murali; Gottlieb, Leah; Abdelnabi, Rana; Van Gool, Michiel; Van den Broeck, Nick; De Pauw, Ines; Diels, Annick; Vermeulen, Peter; Temmerman, Koen; Scobey, Trevor; Mattocks, Melissa; Schäfer, Alexandra; Jochmans, Dirk; De Jonghe, Steven; Leyssen, Pieter; Chiu, Winston; Diosa Toro, Mayra; Zwaagstra, Marleen; Leijs, Anouk A.; De Gruyter, Heidi L. M.; Buyck, Christophe; Van Den Heede, Klaas; Jacobs, Frank; Van den Eynde, Christel; Thijs, Laura; Raeymaekers, Valerie; Miller, Seth; Del Rosario, Amanda; Neyts, Johan; Peeters, Danielle; Baric, Ralph S.; van Kuppeveld, Frank J. M.; Snijder, Eric J.; van Hemert, Martijn J.; Monshouwer, Mario; Sharma, Sujata; Draghia-Akli, Ruxandra; Koul, Anil; Van Loock, Marnix
Nature: International weekly journal of science. 640(8058):506-513
Academic Journal
Sathiya N Manivannan; Jolien Roovers; Noor Smal; Candace T Myers; Dilsad Turkdogan; Filip Roelens; Oguz Kanca; Hyung-Lok Chung; Tasja Scholz; Katharina Hermann; Tatjana Bierhals; Hande S Caglayan; Hannah Stamberger; Dana Craiu; Carol Davila; Ingo Helbig; Renzo Guerrini; Anna-Elina Lehesjoki; Carla Marini; Hiltrud Muhle; Rikke S Møller; Bernd Neubauer; Deb Pal; Katalin Sterbova; Pasquale Striano; Tiina Talvik; Sarah von Spiczak; Yvonne Weber; Dorota Hoffman-Zacharska; Heather Mefford; Peter de Jonghe; Shinya Yamamoto; Sarah Weckhuysen; Hugo J Bellen
Brain
Academic Journal
Marianela Schiava; Yolande Parkhurst; Matthew Henderson; Tuomo Polvikoski; Manouela V. Valtcheva; Ichizo Nishino; Michio Inoue; Yukako Nishimori; Yoshihiko Saito; Tanya Stojkovic; Rocio N. Villar-Quiles; Norma Beatriz Romero; Teresinha Evangelista; Edoardo Malfatti; Sarah Souvannanorath; Elena Pegoraro; Pietro Riguzzi; Mauro Monforte; Sara Bortolani; Eleonora Torchia; Mario Sabatelli; Giorgio Tasca; Volker Straub; Chiara Marini-Bettolo; Michela Guglieri; Hakan Cetin; Ellen Gelpi; Sigrid Klotz; Jan L. De Bleecker; Alicia Alonso-Jimenez; Jonathan Baets; Willem De Ridder; Peter De Jonghe; Kristl G. Claeys; Dietmar Rudolf Thal; Jorge A. Bevilacqua; Sushan Luo; Wenhua Zhu; Jie Lin; George Papadimas; Constantinos Papadopoulos; Eleni Zamba-Papanicolaou; Sophia Xirou; Endre Pal; Carmelo Rodolico; Anna Kostera-Pruszczyk; Biruta Kierdaszuk; Anna Kaminska; Nuria Muelas; Juan Jesus Vilchez; Cristina Domínguez-González; Aurelio Hernandez-Lain; Jorge Alonso-Perez; Velina Nedkova-Hristova; Carlos Aledo; Anders Oldfors; Umesh A. Badrising; Hani Kushlaf; Thomas E. Lloyd; Chiseko Ikenaga; Lindsay N. Alfano; Colin C. Quinn; David Walk; Matthias Vorgerd; Conrad Weihl; Montse Olivé; Jordi Diaz-Manera; Adolfo López de Munain; Alba Ramos-Fransi; Aleksandra Nadaj-Pakleza; Alicia Martinez-Piñeiro; Ana Töpf; Anna Mayhew; Anna Rydelius; Anthony Behin; Antonio Toscano; Beatrice Lannes; Beatriz Velez; Benedikt Schoser; Bjarne Udd; Boel De Paepe; Bruno Eymard; Carla Marco Cazcarra; Carmen Paradas; Carola Hedberg-Oldfors; Channa Hewamadduma; Cheryl Longman; Christopher Nance; Corinne Metay; David Hilton-Jones; Edmar Zanotelli; Elizabeth A. Harrington; Ellen Eline; Eloy Rivas; Francesc Miralles Morell; Gergious Manousakis; Gianni Sorarù; Giulia Bisogni; Giuseppe Lucente; Guillaume Bassez; Judith Hudson; Kate Taylor; Kinga Hadzsiev; Luca Bello; Maria Elena Farrugia; Marianne de Visser; Mario Campero; Marion Masingue; Marta Caballero-Ávila; Matthew B. Harms; Meredith James; Mónica Povedano; Monika Hofer; Natalia Garcia-Angarita; Nicholas Earle; Noemi Vidal Sarró; Pascal Lafôret; Pascale Richard; Paulo Victor Sgobbi Souza; Phillipa J. Lamont; Pilar Camaño; Raúl Domínguez Rubio; Robert Carlier; Robert Muni-Lofra; Roberto Fernández-Torrón; Rodrigo Alvarez; Rudi Kley; Sabine Krause; Sarah Leonard-Louis; Simone Thiele; Sruthi S. Nair; Stefen Brady; Stojan Peric; Stuart Ralston; Tiffany Grider; Timothy Williams; Vidosava Rakocevic-Stojanovic; Virginia Kimonis; William Kelly; Young-Eun Park; Zarife Sahenk
Neurol Genet
Articles publicats en revistes (Institut d'lnvestigació Biomèdicade Bellvitge (IDIBELL))
Dipòsit Digitalde la UB
instname
Neurology : Genetics
Articles publicats en revistes (Institut d'lnvestigació Biomèdica
Dipòsit Digital
instname
Neurology : Genetics
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
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
De Jonghe, Joachim; Opzoomer, James W.; Vilas-Zornoza, Amaia; Crane, Peter; Nilges, Benedikt S.; Vicari, Marco; Lee, Hower; Lara-Astiaso, David; Gross, Torsten; Morf, Joerg; Schneider, Kim; Cudini, Juliana; Ramos-Mucci, Lorenzo; Mooijman, Dylan; Tiklova, Katarina; Salas, Sergio Marco; Langseth, Christoffer Mattsson; Kashikar, Nachiket D.; Roberts, Charles E. S.; Lundeberg, Joakim; Nilsson, Mats; Shalek, Alex K.; Cribbs, Adam P.; Taylor-King, Jake P.
Nature Biotechnology. 42(7):1017-1023
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
Matthis Synofzik; Katherine L. Helbig; Florian Harmuth; Tine Deconinck; Pranoot Tanpaiboon; Bo Sun; Wenting Guo; Ruiwu Wang; Erika Palmaer; Sha Tang; G. Bradley Schaefer; Janina Gburek-Augustat; Stephan Züchner; Ingeborg Krägeloh-Mann; Jonathan Baets; Peter de Jonghe; Peter Bauer; S. R. Wayne Chen; Ludger Schöls; Rebecca Schüle
European journal of human genetics 26(11), 1623-1634 (2018). doi:10.1038/s41431-018-0206-3
European journal of human genetics
European Journal of Human Genetics
European journal of human genetics
European Journal of Human Genetics
Academic Journal
De Jonghe, Joachim; Opzoomer, James W.; Vilas-Zornoza, Amaia; Nilges, Benedikt S.; Crane, Peter; Vicari, Marco; Lee, Hower; Lara-Astiaso, David; Gross, Torsten; Morf, Jörg; Schneider, Kim; Cudini, Juliana; Ramos-Mucci, Lorenzo; Mooijman, Dylan; Tiklová, Katarína; Salas, Sergio Marco; Langseth, Christoffer Mattsson; Kashikar, Nachiket D.; Schapiro, Denis; Lundeberg, Joakim; Nilsson, Mats; Shalek, Alex K.; Cribbs, Adam P.; Taylor-King, Jake P.; Carrami, Eli M.; McIntyre, Rebecca; Swerner, Casey Benjamin; Hessel, Edith M.; Kapourani, ChantrioInt-Andreas; Regep, Cristian; Roberts, Charles E.S.
Cell Genomics. 4(12)
Academic Journal
Sathiya N. Manivannan; Jolien Roovers; Noor Smal; Candace T. Myers; Dilsad Turkdogan; Filip Roelens; Oguz Kanca; Hyung-Lok Chung; Tasja Scholz; Katharina Hermann; Tatjana Bierhals; S. Hande Caglayan; Hannah Stamberger; Heather Mefford; Peter de Jonghe; Shinya Yamamoto; Sarah Weckhuysen; Hugo J. Bellen
Academic Journal
Birte Zurek; Kornelia Ellwanger; Lisenka E. L. M. Vissers; Rebecca Schüle; Matthis Synofzik; Ana Töpf; Richarda M. de Voer; Steven Laurie; Leslie Matalonga; Christian Gilissen; Stephan Ossowski; Peter A. C. ’t Hoen; Antonio Vitobello; Julia M. Schulze-Hentrich; Olaf Riess; Han G. Brunner; Anthony J. Brookes; Ana Rath; Gisèle Bonne; Gulcin Gumus; Alain Verloes; Nicoline Hoogerbrugge; Teresinha Evangelista; Tina Harmuth; Morris Swertz; Dylan Spalding; Alexander Hoischen; Sergi Beltran; Holm Graessner; Tobias B. Haack; German Demidov; Marc Sturm; Christoph Kessler; Melanie Wayand; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Wouter Steyaert; Karolis Sablauskas; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Siddharth Banka; Elizabeth Alexander; Adam Jackson; Laurence Faivre; Christel Thauvin; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Ivo Glynne Gut; Davide Piscia; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Virginie Bros-Facer; 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; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; 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; 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
Eur J Hum Genet
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
European Journal of Human Genetics
European journal of human genetics 29(9), 1325-1331 (2021). doi:10.1038/s41431-021-00859-0
European Journal of Human Genetics, 29, 9, pp. 1325-1331
Solve-RD consortium 2021, 'Solve-RD : systematic pan-European data sharing and collaborative analysis to solve rare diseases', European Journal of Human Genetics, vol. 29, no. 9, pp. 1325-1331. https://doi.org/10.1038/s41431-021-00859-0
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Nature Genetics. 50(7):1048-1053
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Gemma L. Carvill; Krysta L. Engel; Aishwarya Ramamurthy; J. Nicholas Cochran; Jolien Roovers; Hannah Stamberger; Nicholas Lim; Amy L. Schneider; Georgie Hollingsworth; Dylan H. Holder; Brigid M. Regan; James Lawlor; Lieven Lagae; Berten Ceulemans; E. Martina Bebin; John Nguyen; Gregory S. Barsh; Sarah Weckhuysen; Miriam Meisler; Samuel F. Berkovic; Peter De Jonghe; Ingrid E. Scheffer; Richard M. Myers; Gregory M. Cooper; Heather C. Mefford; Pasquale Striano; Federico Zara; Ingo Helbig; Rikke S. Møller; Sarah von Spiczak; Hiltrud Muhle; Hande Caglayan; Katalin Sterbova; Dana Craiu; Dorota Hoffman; Anna-Elina Lehesjoki; Kaja Selmer; Christel Depienne; Johannes Lemke; Carla Marini; Renzo Guerrini; Bernd Neubauer; Tiina Talvik; Eric Leguern; Peter de Jonghe
The American journal of human genetics
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Møller, R S & EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group 2018, ' Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1022-1029 . https://doi.org/10.1016/j.ajhg.2018.10.023
Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases
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Danique Beijer; Sheila Marte; Jiaxin C Li; Willem De Ridder; Jessie Z Chen; Abigail L D Tadenev; Kathy E Miers; Tine Deconinck; Richard Macdonell; Wilson Marques; Peter De Jonghe; Samia L Pratt; Rebecca Meyer-Schuman; Stephan Züchner; Anthony Antonellis; Robert W Burgess; Jonathan Baets
Brain communications
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Joshua E. Motelow; Gundula Povysil; Ryan S. Dhindsa; Kate E. Stanley; Andrew S. Al- len; Yen-Chen Anne Feng; Daniel P. Howrigan; Liam E. Abbott; Ka- therine Tashman; Felecia Cerrato; Caroline Cusick; Tarjinder Singh; Henrike Heyne; Andrea E. Byrnes; Claire Churchhouse; Nick Watts; Matthew Solomonson; Dennis Lal; Namrata Gupta; Benjamin M. Neale; Gianpiero L. Cavalleri; Patrick Cossette; Chris Cotsapas; Peter De Jonghe; Tracy Dixon-Salazar; Renzo Guerrini; Hakon Hakonarson; Erin L. Heinzen; Ingo Helbig; Patrick Kwan; Anthony G. Marson; Slave ? Petrovski; Sitharthan Kamalakaran; Sanjay M. Sisodiya; Randy Stewart; Sarah Weckhuysen; Chantal Depondt; Dennis J. Dlugos; Ingrid E. Scheffer; Pasquale Striano; Catharine Freyer; Roland Krause; Patrick May; Kevin McKenna; Brigid M. Regan; Caitlin A. Bennett; Costin Leu; Stephanie L. Leech; Terence J. O'Brien; Marian Todaro; Hannah Stamberger; Danielle M. Andrade; Quratulain Zulfiqar Ali; Tara R. Sadoway; Heinz Krestel; Andre ? Schaller; Savvas S. Papacostas; Ioanna Kou- siappa; George A. Tanteles; Yiolanda Christou; Katalin Sterbova ?; Marke ? ta Vlckova ?; Lucie Sedlackova; Petra Lassuthova ?; Karl Martin Klein; Felix Rosenow; Philipp S. Reif; Susanne Knake; Bernd A. Neubauer; Friedrich Zimprich; Martha Feucht; Eva M. Reinthaler; Wolfram S. Kunz; Ga ?bor Zsurka; Rainer Surges; Tobias Baumgart- ner; Randi von Wrede; Manuela Pendziwiat; Hiltrud Muhle; An- nika Rademacher; Andreas van Baalen; Sarah von Spiczak; Ulrich Stephani; Zaid Afawi; Amos D. Korczyn; Moien Kanaan; Christina Canavati; Gerhard Kurlemann; Karen Mu ?ller-Schlu ?ter; Gerhard Kluger; Martin Ha ?usler; Ilan Blatt; Johannes R. Lemke; Ilona Krey; Yvonne G. Weber; Stefan Wolking; Felicitas Becker; Stephan Lauxmann; Christian Boßelmann; Josua Kegele; Christian Hengs- bach; Sarah Rau; Bernhard J. Steinhoff; Andreas Schulze-Bonhage; IngoBorggra ?fe; ChristophJ.Schankin; SusanneSchubert-Bast; Herbert Schreiber; Thomas Mayer; Rudolf Korinthenberg; Knut Brockmann; Markus Wolff; Dieter Dennig; Rene Madeleyn; Reetta Ka ?lvia ?inen; Anni Saarela; Oskari Timonen; Tarja Linnankivi; Anna-Elina Lehesjoki; Sylvain Rheims; Gaetan Lesca; Philippe Ryvlin; Louis Maillard; Luc Valton; Philippe Derambure; Fabrice Bartolomei; Edouard Hirsch; Ve ?ronique Michel; Francine Chas- soux; Mark I. Rees; Seo-Kyung Chung; William O. Pickrell; Robert Powell; Mark D. Baker; Beata Fonferko-Shadrach; Charlotte Law- thom; Joseph Anderson; Natascha Schneider; Simona Balestrini; Sara Zagaglia; Vera Braatz; Michael R. Johnson; Pauls Auce; Graeme J. Sills; Larry W. Baum; Pak C. Sham; Stacey S. Cherny; Colin H.T. Lui; Norman Delanty; Colin P. Doherty; Arif Shukralla; Hany El-Naggar; Peter Widdess-Walsh; Nina Barisic; Laura 12 The American Journal of Human Genetics 108; 1-18; June 3; 2021 Please cite this article in press as: Epi25 Collaborative; Sub-genic intolerance; ClinVar; the epilepsies: A whole-exome sequencing study of 29; 165 individuals; The American Journal of Human Genetics (2021); https://doi.org/10.1016/j.ajhg.2021.04.009 Canafoglia; Silvana Franceschetti; Barbara Castellotti; Tiziana Granata; Francesca Ragona; Federico Zara; Michele Iacomino; An- tonella Riva; Francesca Madia; Maria Stella Vari; Vincenzo Salpie- tro; Marcello Scala; Maria Margherita Mancardi; Lino Nobili; Elisa- betta Amadori; Thea Giacomini; Francesca Bisulli; Tommaso Pippucci; Laura Licchetta; Raffaella Minardi; Paolo Tinuper; Lor- enzo Muccioli; Barbara Mostacci; Antonio Gambardella; Angelo Labate; Grazia Annesi; Lorella Manna; Monica Gagliardi; Elena Parrini; Davide Mei; Annalisa Vetro; Claudia Bianchini; Martino Montomoli; Viola Doccini; Carmen Barba; Shinichi Hirose; At- sushi Ishii; Toshimitsu Suzuki; Yushi Inoue; Kazuhiro Yamakawa; Ahmad Beydoun; Wassim Nasreddine; Nathalie Khoueiry Zgheib; Birute Tumiene; Algirdas Utkus; Lynette G. Sadleir; Chontelle King; S. Hande Caglayan; Mutluay Arslan; Zuhal Yap?c?; P?nar To- paloglu; Bulent Kara; Uluc Yis; Dilsad Turkdogan; Asl? Gun- dogdu-Eken; Nerses Bebek; Meng-Han Tsai; Chen-Jui Ho; Chih- Hsiang Lin; Kuang-Lin Lin; I-Jun Chou; Annapurna Poduri; Beth R. Shiedley; Catherine Shain; Jeffrey L. Noebels; Alicia Goldman; Robyn M. Busch; Lara Jehi; Imad M. Najm; Lisa Ferguson; Jean Khoury; Tracy A. Glauser; Peggy O. Clark; Russell J. Buono; Thomas N. Ferraro; Michael R. Sperling; Warren Lo; Michael Privitera; Jac- queline A. French; Steven Schachter; Ruben I. Kuzniecky; Orrin Devinsky; Manu Hegde; David A. Greenberg; Colin A. Ellis; Ethan Goldberg; Katherine L. Helbig; Mahgenn Cosico; Priya Vaidis- waran; Eryn Fitch; Samuel F. Berkovic; Holger Lerche; Daniel H. Lowenstein; David B. Goldstein.
American journal of human genetics (2021). doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas,Peter De Jonghe , Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou-siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart-ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An-nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs-bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe,ChristophJ.Schankin,SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas-soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law-thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, The American Journal of Human Genetics (2021), https:%2F%2Fdoi.org%2F10.1016%2Fj.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An-tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie-tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa-betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor-enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At-sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To-paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun-dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih-Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac-queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis-waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, and David B. Goldstein./titolo:Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume
The American journal of human genetics
info:cnr-pdr/source/autori:Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al-len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka-therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas,
The American journal of human genetics
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npj Genomic Medicine. 4(1)
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Enrico, Leipold; Lutz, Liebmann; G Christoph, Korenke; Theresa, Heinrich; Sebastian, Giesselmann; Jonathan, Baets; Matthias, Ebbinghaus; R Oliver, Goral; Tommy, Stödberg; J Christopher, Hennings; Markus, Bergmann; Janine, Altmüller; Holger, Thiele; Andrea, Wetzel; Peter, Nürnberg; Vincent, Timmerman; Peter, De Jonghe; Robert, Blum; Hans-Georg, Schaible; Joachim, Weis; Stefan H, Heinemann; Christian A, Hübner; Ingo, Kurth
Nature Genetics
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