학술논문
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'학술논문'
에서 검색결과 1,170건 | 목록
1~20
Academic Journal
Lemke, Johannes R.; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A.; Vuorinen, Anna-Leena; Aldhalaan, Hesham M.; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B.; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A.; Møller, Rikke S.; Schelhaas, Helenius J.; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D.; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R. M.; Weckhuysen, Sarah; Traynelis, Stephen F.; Benke, Tim A.; Heyne, Henrike O.; Syrbe, Steffen
Molecular Psychiatry. 31(1):374-382
Academic Journal
Claudia M. Bonardi; Rikke S. Møller; Nuria Ruiz-Reig; Guoliang Chai; Camilla G. Madsen; Allan Bayat; Trine B. Hammer; Christina D. Fenger; Elena Gardella; Pawel Gawlinski; Mateusz Dawidziuk; Wojciech Wiszniewski; Monika Bekiesinska-Figatowska; Sara Cabet; Massimiliano Rossi; Gaetan Lesca; Evan Gouy; Birgit Jepsen; Tomasz S. Mieszczanek; Rossana Sanchez Russo; Eileen E. Barr; Katrin Õunap; Pilvi Ilves; Monica H. Wojcik; Mohamed Aittaleb; Klaus Brusgaard; Fadel Tissir; Guido Rubboli
Nature Communications, Vol 17, Iss 1, Pp 1-18 (2026)
Academic Journal
Clara Houdayer; A. Marie Phillips; Marie Chabbert; Jennifer Bourreau; Reza Maroofian; Henry Houlden; Kay Richards; Nebal Waill Saadi; Eliška Dad'ová; Patrick Van Bogaert; Mailys Rupin; Boris Keren; Perrine Charles; Thomas Smol; Audrey Riquet; Lynn Pais; Anne O'Donnell‐Luria; Grace E. VanNoy; Allan Bayat; Rikke S Møller; Kern Olofsson; Rami Abou Jamra; Steffen Syrbe; Majed Dasouki; Laurie H. Seaver; Jennifer A. Sullivan; Vandana Shashi; Fowzan S. Alkuraya; Alexis F. Poss; J. Edward Spence; Rhonda E. Schnur; Ian C. Forster; Chaseley E. Mckenzie; Cas Simons; Min Wang; Penny Snell; Kavitha Kothur; Michael Buckley; Tony Roscioli; Noha Elserafy; Benjamin Dauriat; Vincent Procaccio; Daniel Henrion; Guy Lenaers; Estelle Colin; Nienke E. Verbeek; Koen L. Van Gassen; Claire Legendre; Dominique Bonneau; Christopher A. Reid; Katherine B. Howell; Alban Ziegler; Christian Legros
Ann Neurol
Academic Journal
Cathrine E. Gjerulfsen; Stefan Juhl; Katarzyna M. Mieszczanek; Lucie Spanilá; Kristin S. Thygesen; Agnieszka Pavbro; Rikke S. Møller; Guido Rubboli
Neurol Sci
Gjerulfsen, C E, Juhl,S , Mieszczanek, K M, Spanilá, L, Thygesen, K S , Pavbro, A, Møller , R S & Rubboli, G 2025, ' Cenobamate as add-on treatment in ultra-refractory focal epilepsy : Real-world results from The Danish Epilepsy Centre, Dianalund, Denmark ', Neurological Sciences, vol. 46, no. 8, pp. 3875-3884 . https://doi.org/10.1007/s10072-025-08174-y
Gjerulfsen, C E, Juhl,
Academic Journal
Sebastian Ortiz De la Rosa; Valentina Rizzo; Robin‐Tobias Jauss; Tobias Bartolomaeus; Maria Escolar; Geneviève Bernard; Ralitza Gavrilova; Rebecca Ahrens‐Nicklas; Gabrielle Lemire; Kym M. Boycott; Saadet Mercimek‐Andrews; Paolo Prontera; Cinzia Costa; Bojana Rakic; Cornelius F. Boerkoel; Stephanie Huynh; Linda Huh; Elliott Sherr; Emanuela Argilli; Juan Darío Ortigoza‐Escobar; Didac Casas‐Alba; Tania Nunes; David A. Koolen; Konrad Platzer; Marianne S. Khinchi; Elena Gardella; Christina D. Fenger; Rikke S. Møller; Allan Bayat
Epilepsia
Epilepsia, 66, 7, pp. 2379-2390
De la Rosa,S O, Rizzo, V, Jauss, R T, Bartolomaeus, T, Escolar, M, Bernard, G, Gavrilova, R, Ahrens-Nicklas, R, Lemire, G, Boycott, K M, Mercimek-Andrews, S , Prontera, P, Costa, C, Rakic, B, Boerkoel, C F, Huynh, S , Huh, L, Sherr, E, Argilli, E, Ortigoza-Escobar, J D, Casas-Alba, D, Nunes, T, Koolen, D A, Platzer, K, Khinchi, M S , Gardella, E, Fenger, C D, Møller , R S & Bayat, A 2025, ' MBOAT7 encephalopathy : Characterizing the neurology and epileptology ', Epilepsia, vol. 66, no. 7, pp. 2379-2390 . https://doi.org/10.1111/epi.18376
Epilepsia, 66, 7, pp. 2379-2390
De la Rosa,
Academic Journal
Marlene Rong; Paula T. Marques; Quratulain Zulfiqar Ali; Ricardo Morcos; Ilakkiah Chandran; Farah Qaiser; Rikke S. Møller; Allan Bayat; Guido Rubboli; Elena Gardella; Miriam S. Reuter; Tristan T. Sands; Ingrid E. Scheffer; Amy Schneider; Annapurna Poduri; Elaine Wirrell; Rima Nabbout; Joseph Sullivan; Kette Valente; Stéphane Auvin; Kelly G. Knupp; Andreas Brunklaus; Ángel Aledo‐Serrano; Danielle M. Andrade
Epilepsia
Rong, M, Marques, P T, Ali, Q Z, Morcos, R, Chandran, I, Qaiser, F,Møller , R S , Bayat, A, Rubboli, G, Gardella, E, Reuter, M S , Sands, T T, Scheffer, I E, Schneider, A, Poduri, A, Wirrell, E, Nabbout, R, Sullivan, J, Valente, K, Auvin, S , Knupp, K G, Brunklaus, A, Aledo-Serrano, Á & Andrade, D M 2025, ' Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy ', Epilepsia, vol. 66, no. 6, pp. 2046-2052 . https://doi.org/10.1111/epi.18346
Rong, M, Marques, P T, Ali, Q Z, Morcos, R, Chandran, I, Qaiser, F,
Academic Journal
Lemke, Johannes R.; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A.; Vuorinen, Anna-Leena; Aldhalaan, Hesham M.; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B.; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A.; Møller, Rikke S.; Schelhaas, Helenius J.; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D.; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R. M.; Weckhuysen, Sarah; Traynelis, Stephen F.; Benke, Tim A.; Heyne, Henrike O.; Syrbe, Steffen
Molecular Psychiatry. 31(2):1204-1204
Academic Journal
Cathrine E. Gjerulfsen; Madeleine J. Oudin; Francesca Furia; Sopio Gverdtsiteli; Cecilie Johannessen Landmark; Marina Trivisano; Simona Balestrini; Renzo Guerrini; Angel Aledo‐Serrano; Ricardo Morcos; Roberto Previtali; Pierangelo Veggiotti; Emilia Ricci; Guido Rubboli; Elena Gardella; Rikke S. Møller
Epilepsia. 66:1119-1128
Academic Journal
Alessandro Ferretti; Margherita Furlan; Kevin E. Glinton; Christina D. Fenger; Felix Boschann; Shimriet Zeidler; Corinna Stoltenburg; Tahsin Stefan Barakat; Julian A. Martinez-Agosto; Orrin Devinsky; Francesca Furia; Guido Rubboli; Anteo Di Napoli; Giulia Bellone; Silvia Furio; Marisa Piccirillo; Maurizio Mennini; Giovanni Di Nardo; Pasquale Parisi; Rikke S. Møller; Yaping Yang; Pawel Stankiewicz; Elena Gardella
Pediatric Neurology. 170:58-65
Academic Journal
Francesca Furia; Charlene Son Rigby; Ingrid E. Scheffer; Nicholas Allen; Kate Baker; Christian Hengsbach; Josua Kegele; James Goss; Kathleen Gorman; Misra-Isrie Mala; Francesco Nicita; Talia Allan; Alberto Spalice; Yvonne Weber; Ganna Balagura; Bruria Benzeev; Hilgo Bruining; Alejandra Darling; Ángeles García Cazorla; Mathieu Milh; Rikke Steensbjerre Møller; Hannah Stamberger; Pasquale Striano; Steffen Syrbe; Kim Marie Thalwitzer; Matthijs Verhage; Sarah Weckhuysen; Guido Rubboli; Rikke S. Møller; Elena Gardella
Neurol Sci
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Italy
Neurological sciences
Furia, F, Rigby, CS , Scheffer, I E, Allen, N, Baker, K, Hengsbach, C, Kegele, J, Goss, J, Gorman, K, Mala, M I, Nicita, F, Allan, T, Spalice, A, Weber, Y, Rubboli, G, Møller , R S , Gardella, E, STXBP1 foundation & European STXBP1 consortium (ESCO) 2025, ' Early mortality in STXBP1-related disorders ', Neurological Sciences, vol. 46, no. 3, pp. 1339-1347 . https://doi.org/10.1007/s10072-024-07783-3
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Italy
Neurological sciences
Furia, F, Rigby, C
Academic Journal
Ferretti, Alessandro, MD; Furlan, Margherita, MD; Glinton, Kevin E., MD, PhD; Fenger, Christina D., MSc, PhD; Boschann, Felix, MD; Zeidler, Shimriet, MD, PhD; Stoltenburg, Corinna, MD; Barakat, Tahsin Stefan, MD, PhD; Martinez-Agosto, Julian A., MD, PhD; Devinsky, Orrin, MD; Furia, Francesca, MD, PhD; Rubboli, Guido, MD; Di Napoli, Anteo, MD, MSc; Bellone, Giulia, MD; Furio, Silvia, MD; Piccirillo, Marisa, MD; Mennini, Maurizio, MD, PhD; Di Nardo, Giovanni, MD, PhD; Parisi, Pasquale, MD, PhD; Møller, Rikke S., MSc, PhD; Yang, Yaping, PhD; Stankiewicz, Pawel, MD, PhD; Gardella, Elena, MD, PhD
Pediatric Neurology. 170:58-65
Academic Journal
Alberto Cossu; Francesca Furia; Jacopo Proietti; Caterina Ancora; Chiara Reale; Francesca Darra; Roberto Previtali; Bernardo Dalla Bernardina; Guido Rubboli; Sandor Beniczky; Rikke S. Møller; Gaetano Cantalupo; Elena Gardella
Epilepsia
Cossu, A, Furia, F, Proietti, J, Ancora, C, Reale, C, Darra, F, Previtali, R, Bernardina, B D, Rubboli, G, Beniczky,S , Møller , R S , Cantalupo, G & Gardella, E 2024, ' Quantitative EEG biomarkers for STXBP1-related disorders ', Epilepsia, vol. 65, no. 12, pp. 3595-3606 . https://doi.org/10.1111/epi.18154
Cossu, A, Furia, F, Proietti, J, Ancora, C, Reale, C, Darra, F, Previtali, R, Bernardina, B D, Rubboli, G, Beniczky,S , Møller , R S , Cantalupo, G & Gardella, E 2024, 'Quantitative EEG biomarkers for STXBP1-related disorders', Epilepsia, vol. 65, no. 12, pp. 3595-3606. https://doi.org/10.1111/epi.18154
Cossu, A, Furia, F, Proietti, J, Ancora, C, Reale, C, Darra, F, Previtali, R, Bernardina, B D, Rubboli, G, Beniczky,
Cossu, A, Furia, F, Proietti, J, Ancora, C, Reale, C, Darra, F, Previtali, R, Bernardina, B D, Rubboli, G, Beniczky,
Academic Journal
Francesca Furia; Katrine M. Johannesen; Claudia M. Bonardi; Roberto Previtali; Angel Aledo‐Serrano; Massimo Mastrangelo; Jacopo Favaro; Silvia Masnada; Valentina di Micco; Jacopo Proietti; Pierangelo Veggiotti; Guido Rubboli; Gaetano Cantalupo; Kern Olofsson; Rikke S. Møller; Elena Gardella
Epilepsia Open
Epilepsia Open, Vol 9, Iss 6, Pp 2186-2197 (2024)
Furia, F, Johannesen, K M, Bonardi, C M, Previtali, R, Aledo-Serrano, A, Mastrangelo, M, Favaro, J, Masnada,S , di Micco, V, Proietti, J, Veggiotti, P, Rubboli, G, Cantalupo, G, Olofsson, K, Møller , R S & Gardella, E 2024, ' Sleep disturbances in SCN8A-related disorders ', Epilepsia open, vol. 9, no. 6, pp. 2186-2197 . https://doi.org/10.1002/epi4.13042
Epilepsia Open, Vol 9, Iss 6, Pp 2186-2197 (2024)
Furia, F, Johannesen, K M, Bonardi, C M, Previtali, R, Aledo-Serrano, A, Mastrangelo, M, Favaro, J, Masnada,
Academic Journal
Francesca Furia; Amanda M. Levy; Miel Theunis; Michael J. Bamshad; Meghan N. Bartos; Emilia K. Bijlsma; Francesco Brancati; Lucile Cejudo; Jessica X. Chong; Chiara De Luca; Sarah Joy Dean; Alena Egense; Himanshu Goel; Adam J. Guenzel; Ulrike Hüffmeier; Eric Legius; Grazia M. S. Mancini; Iñigo Marcos‐Alcalde; Tanguy Niclass; Marc Planes; Sylvia Redon; David Ros‐Pardo; Karen Rouault; Rachel Schot; Sarah Schuhmann; Joseph J. Shen; Alice M. Tao; Isabelle Thiffault; Hilde Van Esch; Ingrid M. Wentzensen; Tahsin Stefan Barakat; Rikke S. Møller; Paulino Gomez‐Puertas; Wendy K. Chung; Elena Gardella; Zeynep Tümer
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L, Chong, J X, De Luca, C, Dean,S J, Egense, A, Goel, H, Guenzel, A J, Hüffmeier, U, Legius, E, Mancini, G M S , Marcos-Alcalde, I, Niclass, T, Planes, M, Redon, S , Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S , Shen, J J, Tao, A M, Thiffault, I, Van Esch, H, Wentzensen, I M, Barakat, T S , Møller , R S , Gomez-Puertas, P, Chung, W K, Gardella, E & Tümer, Z 2024, ' The phenotypic and genotypic spectrum of individuals with mono-or biallelic ANK3 variants ', Clinical Genetics, vol. 106, no. 5, pp. 574-584 . https://doi.org/10.1111/cge.14587
Consejo Superior de Investigaciones Científicas (CSIC)
Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L, Chong, J X, De Luca, C, Dean,
Academic Journal
Alessandro Ferretti; Margherita Furlan; Kevin E. Glinton; Christina D. Fenger; Felix Boschann; Louise Amlie-Wolf; Shimriet Zeidler; Raffaella Moretti; Corinna Stoltenburg; Daniel C. Tarquinio; Francesca Furia; Pasquale Parisi; Guido Rubboli; Orrin Devinsky; Cyril Mignot; Karen W. Gripp; Rikke S. Møller; Yaping Yang; Pawel Stankiewicz; Elena Gardella
Pediatric Neurology. 158:17-25
Academic Journal
Cathrine E. Gjerulfsen; Marina Nikanorova; Kern Olofsson; Cecilie Johannessen Landmark; Guido Rubboli; Rikke S. Møller
Epilepsia Open
Epilepsia Open, Vol 9, Iss 5, Pp 1891-1900 (2024)
Gjerulfsen, C E, Nikanorova, M, Olofsson, K, Landmark, C J, Rubboli, G &Møller , R S 2024, ' Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs : A retrospective and observational real-world study ', Epilepsia open, vol. 9, no. 5, pp. 1891-1900 . https://doi.org/10.1002/epi4.13029
Epilepsia Open, Vol 9, Iss 5, Pp 1891-1900 (2024)
Gjerulfsen, C E, Nikanorova, M, Olofsson, K, Landmark, C J, Rubboli, G &
Academic Journal
Charissa Millevert; Anthony Sze Hon Kan; Moritz Hanke; Mahmoud Koko; Maryam Erfanian Omidvar; Ulrike B S Hedrich; Thomas V Wuttke; Nina Barišić; Lieven Lagae; Ángel Aledo-Serrano; Eva-Maria Niehoff; Konrad Platzer; Pia Zacher; Tilman Polster; Robertino Dilena; Edoardo Monfrini; David Geneviève; Agathe Roubertie; Ange-Line Bruel; Frederic Tran Mau-Them; Majed Dasouki; Stacey Cohen; Ingo Helbig; Alicia G Harrison; Ellis Colin; Holly A Dubbs; Eric D Marsh; Sébastien Lebon; Na He; Heng Meng; Mary Chebib; Rikke S Møller; Carla Marini; Philip K Ahring; Holger Lerche; Sarah Weckhuysen
Brain
Academic Journal
Dina Buitrago Silva; Marena Trinidad; Alicia Ljungdahl; Jezrael L. Revalde; Geoffrey Y. Berguig; William Wallace; Cory S. Patrick; Lorenzo Bomba; Michelle Arkin; Shan Dong; Karol Estrada; Keino Hutchinson; Jonathan H. LeBowitz; Avner Schlessinger; Katrine M. Johannesen; Rikke S. Møller; Kathleen M. Giacomini; Steven Froelich; Stephan J. Sanders; Arthur Wuster
Am J Hum Genet
American Journal of Human Genetics, vol 111, iss 6
American Journal of Human Genetics, vol 111, iss 6
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