학술논문
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'학술논문'
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Cif, L; Demailly, D; Lin, JP; Barwick, KE; Sa, M; Abela, L; Malhotra, S; Chong, WK; Steel, D; Sanchis-Juan, A; Ngoh, A; Trump, N; Meyer, E; Vasques, X; Rankin, J; Allain, MW; Applegate, CD; Isfahani, S Attaripour; Baleine, J; Balint, B; Bassetti, JA; Baple, EL; Bhatia, KP; Blanchet, C; Burglen, L; Cambonie, G; Seng, EC; Bastaraud, SC; Cyprien, F; Coubes, C; d'Hardemare, V; Study, Deciphering Developmental Disorders; Doja, A; Dorison, N; Doummar, D; Dy-Hollins, ME; Farrelly, E; Fitzpatrick, DR; Fearon, C; Fieg, EL; Fogel, BL; Forman, EB; Fox, RG; Consortium, Genomics England Research; Gahl, WA; Galosi, S; Gonzalez, V; Graves, TD; Gregory, A; Hallett, M; Hasegawa, H; Hayflick, SJ; Hamosh, A; Hully, M; Jansen, S; Jeong, SY; Krier, JB; Krystal, S; Kumar, KR; Laurencin, C; Lee, H; Lesca, G; François, LL; Lynch, T; Mahant, N; Martinez-Agosto, JA; Milesi, C; Mills, KA; Mondain, M; Morales-Briceno, H; BioResource, NIHR; Ostergaard, JR; Pal, S; Pallais, JC; Pavillard, F; Perrigault, PF; Petersen, AK; Polo, G; Poulen, G; Rinne, T; Roujeau, T; Rogers, C; Roubertie, A; Sahagian, M; Schaefer, E; Selim, L; Selway, R; Sharma, N; Signer, R; Soldatos, AG; Stevenson, DA; Stewart, F; Tchan, M; Network, Undiagnosed Diseases; Verma, IC; de Vries, BBA; Wilson, JL; Wong, DA; Zaitoun, R; Zhen, D; Znaczko, A; Dale, RC; de Gusmão, CM; Friedman, J; Fung, VSC; King, MD; Mohammad, SS; Rohena, L; Waugh, JL; Toro, C; Raymond, FL; Topf, M; Coubes, P; Gorman, KM; Kurian, MA
Brain. 2020 Dec 5;143(11):3242-3261
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Hagege, R.; Krajden Haratz, K.; Malinger, G.; Ben‐sira, L.; Leibovitz, Z.; Heron, D.; Burglen, L.; Birnbaum, R.; Valence, S.; Keren, B.; Blumkin, L.; Jouannic, J.‐m.; Lerman‐sagie, T.; Garel, C.
Ultrasound in Obstetrics & Gynecology. 61:740-748
Academic Journal
Katie L. Ayers; Stefanie Eggers; Ben N. Rollo; Katherine R. Smith; Nadia M. Davidson; Nicole A. Siddall; Liang Zhao; Josephine Bowles; Karin Weiss; Ginevra Zanni; Lydie Burglen; Shay Ben-Shachar; Jenny Rosensaft; Annick Raas-Rothschild; Anne Jørgensen; Ralf B. Schittenhelm; Cheng Huang; Gorjana Robevska; Jocelyn van den Bergen; Franca Casagranda; Justyna Cyza; Svenja Pachernegg; David K. Wright; Melanie Bahlo; Alicia Oshlack; Terrence J. O’Brien; Patrick Kwan; Peter Koopman; Gary R. Hime; Nadine Girard; Chen Hoffmann; Yuval Shilon; Amnon Zung; Enrico Bertini; Mathieu Milh; Bochra Ben Rhouma; Neila Belguith; Anu Bashamboo; Kenneth McElreavey; Ehud Banne; Naomi Weintrob; Bruria BenZeev; Andrew H. Sinclair
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Academic Journal
Camille Engel; Stéphanie Valence; Geoffroy Delplancq; Reza Maroofian; Andrea Accogli; Emanuele Agolini; Fowzan S. Alkuraya; Valentina Baglioni; Irene Bagnasco; Mathilde Becmeur-Lefebvre; Enrico Bertini; Ingo Borggraefe; Elise Brischoux-Boucher; Ange-Line Bruel; Alfredo Brusco; Dalal K. Bubshait; Christelle Cabrol; Maria Roberta Cilio; Marie-Coralie Cornet; Christine Coubes; Olivier Danhaive; Valérie Delague; Anne-Sophie Denommé-Pichon; Marilena Carmela Di Giacomo; Martine Doco-Fenzy; Hartmut Engels; Kirsten Cremer; Marion Gérard; Joseph G. Gleeson; Delphine Heron; Joanna Goffeney; Anne Guimier; Frederike L. Harms; Henry Houlden; Michele Iacomino; Rauan Kaiyrzhanov; Benjamin Kamien; Ehsan Ghayoor Karimiani; Dror Kraus; Paul Kuentz; Kerstin Kutsche; Damien Lederer; Lauren Massingham; Cyril Mignot; Déborah Morris-Rosendahl; Lakshmi Nagarajan; Sylvie Odent; Clothilde Ormières; Jennifer Neil Partlow; Laurent Pasquier; Lynette Penney; Christophe Philippe; Gianluca Piccolo; Cathryn Poulton; Audrey Putoux; Marlène Rio; Christelle Rougeot; Vincenzo Salpietro; Ingrid Scheffer; Amy Schneider; Siddharth Srivastava; Rachel Straussberg; Pasquale Striano; Enza Maria Valente; Perrine Venot; Laurent Villard; Antonio Vitobello; Johanna Wagner; Matias Wagner; Maha S. Zaki; Federizo Zara; Gaetan Lesca; Vahid Reza Yassaee; Mohammad Miryounesi; Farzad Hashemi-Gorji; Mehran Beiraghi; Farah Ashrafzadeh; Hamid Galehdari; Christopher Walsh; Antonio Novelli; Moritz Tacke; Dinara Sadykova; Yerdan Maidyrov; Kairgali Koneev; Chingiz Shashkin; Valeria Capra; Mina Zamani; Lionel Van Maldergem; Lydie Burglen; Juliette Piard
European journal of human genetics, Vol. 31, no.9, p. 1023-1031 (2023)
Eur. J. Hum. Genet. 31, 1023-1031 (2023)
European Journal of Human Genetics, vol 31, iss 9
Eur. J. Hum. Genet. 31, 1023-1031 (2023)
European Journal of Human Genetics, vol 31, iss 9
Academic Journal
Katie L. Ayers; Stefanie Eggers; Ben N. Rollo; Katherine R. Smith; Nadia M. Davidson; Nicole A. Siddall; Liang Zhao; Josephine Bowles; Karin Weiss; Ginevra Zanni; Lydie Burglen; Shay Ben-Shachar; Jenny Rosensaft; Annick Raas-Rothschild; Anne Jørgensen; Ralf B. Schittenhelm; Cheng Huang; Gorjana Robevska; Jocelyn van den Bergen; Franca Casagranda; Justyna Cyza; Svenja Pachernegg; David K. Wright; Melanie Bahlo; Alicia Oshlack; Terrence J. O’Brien; Patrick Kwan; Peter Koopman; Gary R. Hime; Nadine Girard; Chen Hoffmann; Yuval Shilon; Amnon Zung; Enrico Bertini; Mathieu Milh; Bochra Ben Rhouma; Neila Belguith; Anu Bashamboo; Kenneth McElreavey; Ehud Banne; Naomi Weintrob; Bruria BenZeev; Andrew H. Sinclair
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Academic Journal
Vincenzo Salpietro; Christine L. Dixon; Hui Guo; Oscar D. Bello; Jana Vandrovcova; Stephanie Efthymiou; Reza Maroofian; Gali Heimer; Lydie Burglen; Stephanie Valence; Erin Torti; Moritz Hacke; Julia Rankin; Huma Tariq; Estelle Colin; Vincent Procaccio; Pasquale Striano; Kshitij Mankad; Andreas Lieb; Sharon Chen; Laura Pisani; Conceicao Bettencourt; Roope Männikkö; Andreea Manole; Alfredo Brusco; Enrico Grosso; Giovanni Battista Ferrero; Judith Armstrong-Moron; Sophie Gueden; Omer Bar-Yosef; Michal Tzadok; Kristin G. Monaghan; Teresa Santiago-Sim; Richard E. Person; Megan T. Cho; Rebecca Willaert; Yongjin Yoo; Jong-Hee Chae; Yingting Quan; Huidan Wu; Tianyun Wang; Raphael A. Bernier; Kun Xia; Alyssa Blesson; Mahim Jain; Mohammad M. Motazacker; Bregje Jaeger; Amy L. Schneider; Katja Boysen; Alison M. Muir; Candace T. Myers; Ralitza H. Gavrilova; Lauren Gunderson; Laura Schultz-Rogers; Eric W. Klee; David Dyment; Matthew Osmond; Mara Parellada; Cloe Llorente; Javier Gonzalez-Peñas; Angel Carracedo; Arie Van Haeringen; Claudia Ruivenkamp; Caroline Nava; Delphine Heron; Rosaria Nardello; Michele Iacomino; Carlo Minetti; Aldo Skabar; Antonella Fabretto; SYNAPS Study Group; Miquel Raspall-Chaure; Michael Chez; Anne Tsai; Emily Fassi; Marwan Shinawi; John N. Constantino; Rita De Zorzi; Sara Fortuna; Fernando Kok; Boris Keren; Dominique Bonneau; Murim Choi; Bruria Benzeev; Federico Zara; Heather C. Mefford; Ingrid E. Scheffer; Jill Clayton-Smith; Alfons Macaya; James E. Rothman; Evan E. Eichler; Dimitri M. Kullmann; Henry Houlden
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Academic Journal
Kurian, M.; Megevand, C.; De Haller, R.; Merlini, L.; Boex, C.; Truffert, A.; Kaelin, A.; Burglen, L.; Korff, C.M.
European Journal of Paediatric Neurology. 17(6):671-675
Academic Journal
Doummar, D. ; Moussa, F. ; Nougues, M.-C. ; Ravelli, C. ; Louha, M. ; Whalen, S. ; Burglen, L. ; Rodriguez, D. ; Billette de Villemeur, T.
In Revue Neurologique November 2018 174(9):581-588
Academic Journal
Ferrafiat, Vladimir; Raffin, Marie; Freri, Elena; Granata, Tiziana; Nardocci, Nardo; Zibordi, Federica; Bodeau, Nicolas; Benarous, Xavier; Olliac, Bertrand; Riquin, Elise; Viaux, Sylvie; Haroche, Julien; Amoura, Zahir; Gérardin, Priscille; Consoli, Angèle; Zahoui, Mohamed; Zhou, Bo; Bilan, Frederic; Zhang, Xianglong; Gilbert-Dussardier, Brigitte; Viaux-Savelon, Sylvie; Pattni, Reenal; Ho, Steve; Urban, Alexander; Delion, Pierre; Labreuche, Julien; Deplanque, Dominique; Duhamel, Alain; Lallié, Céline; Ravary, Maud; Goëb, Jean-Louis; Medjkane, François; Gauthier, Soizic; Anzalone, Salvatore; Zaoui, Mohamed; Chetouani, Mohamed; Villa, François; Berthoz, Alain; Angeard, N.; Huerta, E.; Gargiulo, M.; Servais, L.; Eymard, B.; Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.-L.; Guët, A.; Périsse, D.; Demurger, F.; Quelin, C.; Depienne, C.; Odent, S.; Nava, C.; David, V.; Pasquier, L.; Mignot, C.; Giannitelli, Marianna; Levinson, Douglas; Cohen, David; Xavier, Jean; Laurent-Levinson, Claudine
Schizophrenia Research. 216:470-478
Academic Journal
Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.‐L.; Guët, A.; Xavier, J.; Périsse, D.; Cohen, D.; Demurger, F.; Quélin, C.; Depienne, C.; Odent, S.; Nava, C.; David, V.; Pasquier, L.; Mignot, C.
Clinical Genetics. Mar 01, 2018 93(3):567-576
Academic Journal
Tonduti, D.; Orcesi, S.; Jenkinson, E.M.; Dorboz, I.; Renaldo, F.; Panteghini, C.; Rice, G.I.; Henneke, M.; Livingston, J.H.; Elmaleh, M.; Burglen, L.; Willemsen, M.A.A.P.; Chiapparini, L.; Garavaglia, B.; Rodriguez, D.; Boespflug-Tanguy, O.; Moroni, I.; Crow, Y.J.
European Journal of Paediatric Neurology, 20, 4, pp. 604-10
Tonduti, D, Orcesi, S, Jenkinson, E M, Dorboz, I, Renaldo, F, Panteghini, C, Rice, G I, Henneke, M, Livingston, J H, Elmaleh, M,Burglen , L , Willemsen, M A, Chiapparini, L , Garavaglia, B, Rodriguez, D, Boespflug-Tanguy, O, Moroni, I & Crow, Y J 2016, 'Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome', European Journal of Paediatric Neurology, vol. 20, no. 4, pp. 604-10. https://doi.org/10.1016/j.ejpn.2016.03.009
European Journal of Paediatric Neurology
Tonduti, D, Orcesi, S, Jenkinson, E M, Dorboz, I, Renaldo, F, Panteghini, C, Rice, G I, Henneke, M, Livingston, J H, Elmaleh, M,
European Journal of Paediatric Neurology
Academic Journal
Menicucci, L.; Mane, M.; Durand, N.; Sarret, C.; Roubertie, A.; Boespflug-Tanguy, O.; Dorboz, I.; Damaj, L.; Delignieres, A.; Perrin, L.; Rodriguez, D.; Koenig, M.; Burglen, L.
In: European Journal of Paediatric Neurology . (European Journal of Paediatric Neurology, September 2025, 58:50-56)
Academic Journal
Durizot, M.; Harion, M.; Billette de Villemeur, T.; Rodriguez, D.; Lacaze, E.; Valence, S.; Burglen, L.; Afenjar, A.; Mignot, C.; Garel, C.; Blondiaux, E.; Riquet, A.; Floret, V.; Desportes, V.; Häänpaa, M.; Valenzuela, M.I.; Pinto, A.M.; Renieri, A.; Vanneste, M.; Devriendt, K.; de Waele, L.; Guilbaud, L.; Jouannic, J.-M.; Milh, M.; Cloarec, R.; Héron, D.
In: Pediatric Neurology . (Pediatric Neurology, September 2025, 170:49-57)
Academic Journal
Davakan A; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Cmarko L; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czechia.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czechia.; Ribeiro Oliveira-Mendes B; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Bernat C; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Boulali N; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Montnach J; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Vallee SE; Department of Pediatrics and Clinical Genetics, Dartmouth-Hitchcock Medical Center and Clinics, Lebanon, NH, United States.; Dinulos MB; Department of Pediatrics and Clinical Genetics, Dartmouth-Hitchcock Medical Center and Clinics, Lebanon, NH, United States.; Burglen L; Developmental Brain Disorders, Laboratory, Imagine Institute, Université Paris Cité, INSERM UMR1163, Paris, France.; Pediatric Neurogenetics Laboratory, Department of Genetics, Armand-Trousseau Hospital, APHP, Sorbonne University, Paris, France.; Cantagrel V; Developmental Brain Disorders, Laboratory, Imagine Institute, Université Paris Cité, INSERM UMR1163, Paris, France.; Weiss N; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czechia.; Nicole S; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Monteil A; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; De Waard M; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Lory P; IGF, Université de Montpellier, CNRS, INSERM, Montpellier, France.; LabEx 'Ion Channel Science and Therapeutics', Montpellier, France.
Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE
Academic Journal
European Journal of Paediatric Neurology. 21:e57-e57
Academic Journal
Renaldo, F.; Mignot, C.; Tonduti, D.; Doummar, D.; Bertini, E.; Paquay, S.; Abuawad, M.; Dorboz, I.; Samaan, S.; Elmaleh, M.; Chalard, F.; Boespflug-Tanguy, O.; Burglen, L.; Rodriguez, D.
European Journal of Paediatric Neurology. 21:e162-e162
Academic Journal
Belleville Goffeney, J.; Paris, C.; Bernard, E.; Boucher, E.; Billon Grand, N.C.; Pastor Harper, D.; Ridley, A.; Burglen, L.; Amsallem, D.
European Journal of Paediatric Neurology. 21:e44-e44
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