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Rikke S. Møller

danish epilepsy center

78H指数
406论文数
2.1W被引数
收录论文 195
发表时间
Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey欧洲癫痫中心遗传检测实践:ERN EpiCARE调查
err2026-09-19
err0
errOAAI
errSébile Tchaicha; Johanna Van Hulle; Eva Brilstra; Andreas Brunklaus; Gaetano Cantalupo; Martin Geroldinger; Amy McTague; Reetta Kälviäinen; Eulalia Turón-Viñas; Alexis Arzimanoglou; Rikke S. Møller; Rima Nabbout
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Accurate prediction of gain- and loss-of-function missense variants in GABAA receptorsGABAA受体中增益和失活功能错义突变的准确预测
err2026-08-03
err0
errOAAI
errChristian M. Boßelmann; Sebastian Ortiz; Rebekka Dahl; Vivian W.Y. Liao; Serene El-Kamand; Susan X.N. Lin; Anthony Sze Hon Kan; Tobias Brünger; Dennis Lal; Holger Lerche; Jules Kreuer; Nico Pfeifer; Mary Chebib; Nathan L. Absalom; Philip K. Ahring; Rikke S. Møller
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Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsySCN2A功能丧失的机制不能预测癫痫的存在或表型
err2026-02-05
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errOAAI
errMarsha Tan; Beatrice Southby Goad; Meagan Allen; Jill Rodda; Kay L. Richards; Simone L. Ardern-Holmes; Daniel Bamborschke; Daniel Fritzen; Inna Hughes; Kate Riney; Ana Roche Martinez; Angelo Russo; Adriane Sinclair; Stefano Sartori; Marina Trivisano; Angela De Dominicis; Nicola Specchio; Rikke S. Møller; Ingrid E. Scheffer; Walid Fazeli; Markus Wolff; Steven Petrou; Katherine B. Howell; Géza Berecki
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Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
err2026-01-28
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errOAAI
errSebastian Ortiz; Leonardo Affronte; Chiara Bagliani; Serene El-Kamand; Anthony Sze Hon Kan; Isabel T. Kristoffersen; Rebekka S. Dahl; Anne F. Højte; Stéphane Auvin; Arjan Bouman; Shimriet Zeidler; Gerhard Kluger; Gaetan Lesca; Nicolas Chatron; Zeynep Goke-Samar; Maria T. Papadopoulou; Matthildi Athina Papathanasiou Terzi; Elise Schaefer; Anne de Saint Martin; Sarah Baer; Mohammed Al Owain; Saud Takroni; Hesham Al-Dhalaan; Paolo Bonanni; Alessandra Rossi; Nicoletta Zanotta; Marina Trivisano; Nicola Specchio; Angela de Dominicis; Pasquale Striano; Alessandro Orsini; Maria Margherita Mancardi; Sebastian Neuens; Melanie Jennesson-Lyver; Ira Benkel-Herrenbrueck; David Genevieve; Richard Sidlow; Kamer Tezcan; Ilona Krey; Johannes R. Lemke; Konrad Platzer; Damien Lederer; Inga Talvik; Ulvi Vaher; Kees P. J. Braun; Anne-Marie Guerrot; Rebecca More; Matthias De Wachter; Sarah Weckhuysen; Evelina Carapancea; Maria Roberta Cilio; Julia Jacobs; Katalin Sterbova; Simona Balestrini; Renzo Guerrini; Giulio Peroni; Inger-Lise Mero; Walaa ElNaggar; Nour Elkhateeb; Ariane Schmetz; Denise L. Chan; Ghayda M. Mirzaa; Boris Chaumette; Adrien Legrand; Amy McTague; Tommy Stödberg; Rebekah V. Harris; Samuel F. Berkovic; Ingrid E. Scheffer; Mary Chebib; Elena Gardella; Philip K. Ahring; Nathan L. Absalom; Rikke S. Møller
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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive致病性GABRA3变异的功能后果决定了X连锁遗传是显性还是隐性
err2026-01-16
err0
PREAI
errJohannesen, Katrine M.; Aung, Khaing Phyu; Liao, Vivian W. Y.; Absalom, Nathan; Chua, Han C.; Gan, Xue N.; Mao, Miaomiao; McKenzie, Chaseley E.; Lee, Hian M.; Ortiz, Sebastian; Spillmann, Rebecca C.; Shashi, Vandana; Radtke, Rodney A.; Mirzaa, Ghayda M.; Weisner, P. Anne; Daboub, Josue Flores; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid M. B. H.; van Slegtenhorst, Marjon A.; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K.; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M.; Kruer, Michael C.; Bisarad, Pritha; Galaz-Montoya, Carolina I.; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C.; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F.; Scheffer, Ingrid E.; Chebib, Mary; Rubboli, Guido; Moller, Rikke S.; Reid, Christopher A.; Ahring, Philip K.
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Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humansCELSR1基因的双等位基因变异会导致人类脑部畸形、神经发育障碍和癫痫。
err2026-01-13
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errOAAI
errClaudia 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
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Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy更正:GRIN2A功能缺失变体会增加早发性精神分裂症及其他精神障碍的风险,并可能实现精准治疗
err2026-01-07
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errOAAI
errJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
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Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE癫痫的研究重点领域: 欧洲罕见和复杂癫痫参考网络的立场文件,EpiCARE
err2026-01-01
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errOAAI
errTchaicha, Sebile; Auvin, Stephane; Beniczky, Sandor; Brunklaus, Andreas; Lagae, Lieven; Perucca, Emilio; Surges, Rainer; Adler, Sophie; Helmstaedter, Christoph; Jansen, Floor; Rubboli, Guido; Ryvlin, Philippe; Specchio, Nicola; Trinka, Eugen; Blumcke, Ingmar; De Giorgis, Valentina; Kotulska, Katarzyna; Lesca, Gaetan; Malenica, Masa; McTague, Amy; Nabbout, Rima; Moller, Rikke Steensbjerre; Arrieta, Sandra Silva; Brambilla, Isabella; Kosla, Malgorzata; Braun, Kees; Cross, J. Helen; Arzimanoglou, Alexis
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Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights复发性GABRG2 p.(Ala106Thr)获能功能变异个体的早期神经症状及癫痫结局:结构与表型见解
err2025-12-01
err0
PREAI
errOrtiz, Sebastian; Bagliani, Chiara; Lin, Susan X. N.; Kusay, Ali S.; Silvennoinen, Katri; Kalviainen, Reetta; Jutila, Leena; Saarela, Anni; Dahl, Rebekka S.; Stodberg, Tommy; Marini, Carla; Cesaroni, Elisabetta; Bisulli, Francesca; Licchetta, Laura; Fallica, Elisa; Barco, Tommaso Lo; Torta, Francesca; Rizzo, Valentina; Castro-villablanca, Felipe; Yabumoto, Megan; Mirzaa, Ghayda; Rossi, Alessandra; Laugaard-jacobsen, Christian; Nobili, Lino; Liin, Sara I.; Gardella, Elena; Ahring, Philip K.; Moller, Rikke S.; Rubboli, Guido
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GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapyGRIN2A功能丧失性变异会增加早发性精神分裂症及其他精神疾病的风险,并可能实现精准治疗。
err2025-10-14
err0
errOAAI
errJohannes R. Lemke; Andrea Eoli; Ilona Krey; Bernt Popp; Vincent Strehlow; Dirk A. Wittekind; Anna-Leena Vuorinen; Hesham M. Aldhalaan; Sarah Baer; Anne de Saint Martin; Trine B. Hammer; Isabella Herman; Frauke Hornemann; Trine Ingebrigtsen; Damien Lederer; Gaetan Lesca; Dana Marafie; Mikael Mathot; Jill A. Rosenfeld; Rikke S. Møller; Helenius J. Schelhaas; Chelsey Stillman; Alessandro Orsini; Anup D. Patel; Juliette Piard; Pierangelo Veggiotti; Danique R. M. Vlaskamp; Sarah Weckhuysen; Stephen F. Traynelis; Tim A. Benke; Henrike O. Heyne; Steffen Syrbe
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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disordersSF1剪接因子的杂合致病性变异导致一系列神经发育障碍。
err2025-09-22
err0
PREAI
errJohnny Bou-Rouphael; Auriane Cospain; Thomas Courtin; Boris Keren; Corentine Marie; Marion Lesieur-Sebellin; Delphine Heron; Jean-Madeleine de Sainte Agathe; Solveig Heide; Elodie Lejeune; Chloe Quelin; François Lecoquierre; Mathilde Nizon; Bertrand Isidor; Thomas Besnard; Benjamin Cogne; Xenia Latypova; Jonathan Levy; Pascal Joset; Katharina Steindl; Maria Palomares-Bralo; Fernando Santos-Simarro; Mary Ann Thomas; Amina Abubakar; Sally Ann Lynch; Amelie J. Müller; Tobias B. Haack; Martin Zenker; Michael Parker; Emma Clossick; Michael Spiller; Renarta Crookes; Muriel Holder-Espinasse; Allan Bayat; Rikke S. Møller; Tomasz Stanislaw Mieszczanek; Pierre de la Grange; Julien Buratti; Pierre Marijon; Sabir Ataf; Ryan Gavin; Carlos Parras; Bassem A. Hassan; Cyril Mignot; Laïla El Khattabi
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Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry家族性和散发性SCN8A自限性婴儿癫痫的差异性结局:来自一个大宗国际登记研究的见解
err2025-08-18
err0
PREAI
errFrancesca Furia; Sopio Gverdtsiteli; Wibke Janzarik; Christian Korff; Gaetan Lesca; Maria Margherita Mancardi; Martino Montomoli; Marina Nikanorova; Romina Romaniello; Guido Rubboli; Steffen Syrbe; Federico Vigevano; Rikke S. Møller; Elena Gardella
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Unmasking the role of the occipital lobe in epilepsy with eyelid myoclonia揭示眼睑肌阵挛癫痫中枕叶的作用
err2025-06-13
err0
errOAAI
errEmilia Ricci; Tomasz Stanislaw Mieszczanek; Monica Zilmer; Katarzyna Cebula; Stefan Juhl; Marina Nikanorova; Katarzyna Maria Mieszczanek; Marianne Søndergaard Khinchi; Britta Inga Ulfsdotter Hesslow; Kristin Siølie Thygesen; Charlotte Reinhardt Pedersen; Kern Olofsson; Stephan Wüstenhagen; Rikke S Møller; Guido Rubboli; Sándor Beniczky; Elena Gardella
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Cyclical Vomiting Syndrome in Individuals With BPTF HaploinsufficiencyBPTF杂合不足个体的周期性呕吐综合征
err2025-06-13
err0
PREAI
errAlessandro 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; Elena Gardella
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The genetic and phenotypic spectrum of GABRB1-related disorders
errBrain
IF11.7
err2025-06-05
err0
errOAAI
errCharissa 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; Collin Ellis; 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
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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsHCN2相关神经发育障碍:患者数据和爪蟾细胞模型数据
err2025-06-05
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errOAAI
errClara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD
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Precision medicine in epilepsy: Clinicians' perspectives from an international qualitative study癫痫的精准医学:一项国际定性研究中临床医生的观点
err2025-05-24
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PREAI
errMatthias De Wachter; Anne Juul; Annelies Colliers; Berten Ceulemans; Sarah Weckhuysen; Anna C. Jansen; Rikke S. Møller
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Lack of effectiveness and seizure worsening with cenobamate in pediatric patients with Dravet syndrome西诺巴胺在德瓦特综合征儿科患者中缺乏疗效且导致癫痫发作加重
err2025-04-28
err0
PREAI
errRita Cagigal; Celia Romero-del-Rincon; Ana Fernandez-Perrone; Raquel Cruz; Rikke S. Møller; Angel Aledo-Serrano
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SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neuronsSNAP25变异体I67N:神经元突触表型、药物反应和蛋白质组变化
errBrain
IF11.7
err2025-04-04
err0
PREAI
errMaiken Østergaard; Paola Barbagallo; Henriette Reventlow S Frederiksen; Wendy K Chung; Rikke S Møller; Martin Røssel Larsen; Kristine Freude; Matthijs Verhage; Jakob Balslev Sørensen
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