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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortium. May P, et al. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
Multimodal wearable EEG, EMG and accelerometry measurements improve the accuracy of tonic-clonic seizure detection.
Zhang J, Swinnen L, Chatzichristos C, Broux V, Proost R, Jansen K, Mahler B, Zabler N, Epitashvilli N, Duempelmann M, Schulze-Bonhage A, Schriewer E, Ermis U, Wolking S, Linke F, Weber Y, Symmonds M, Sen A, Biondi A, Richardson MP, Sulaiman I A, Silva AI, Sales F, Vértes G, Van Paesschen W, De Vos M. Zhang J, et al. Among authors: weber y. Physiol Meas. 2024 May 21. doi: 10.1088/1361-6579/ad4e94. Online ahead of print. Physiol Meas. 2024. PMID: 38772401
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
De Giorgis V, Bhatia KP, Boespflug-Tanguy O, Gras D, Marina AD, Desurkar A, Toledo M, Miller I, Rotstein M, Schneider SA, Tarquinio DC, Weber Y, Brandabur M, Mayhew J, Koutsoukos T, De Vivo DC. De Giorgis V, et al. Among authors: weber y. Mov Disord. 2024 May 9. doi: 10.1002/mds.29822. Online ahead of print. Mov Disord. 2024. PMID: 38725190
Enhancing prime editor activity by directed protein evolution in yeast.
Weber Y, Böck D, Ivașcu A, Mathis N, Rothgangl T, Ioannidi EI, Blaudt AC, Tidecks L, Vadovics M, Muramatsu H, Reichmuth A, Marquart KF, Kissling L, Pardi N, Jinek M, Schwank G. Weber Y, et al. Nat Commun. 2024 Mar 7;15(1):2092. doi: 10.1038/s41467-024-46107-z. Nat Commun. 2024. PMID: 38453904 Free PMC article.
195 results