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Page 1
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Lemke JR, et al. Among authors: larsen j. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen J, Johannesen KM, Ek J, Tang S, Marini C, Blichfeldt S, Kibaek M, von Spiczak S, Weckhuysen S, Frangu M, Neubauer BA, Uldall P, Striano P, Zara F; MAE working group of EuroEPINOMICS RES Consortium; Kleiss R, Simpson M, Muhle H, Nikanorova M, Jepsen B, Tommerup N, Stephani U, Guerrini R, Duno M, Hjalgrim H, Pal D, Helbig I, Møller RS. Larsen J, et al. Epilepsia. 2015 Dec;56(12):e203-8. doi: 10.1111/epi.13222. Epub 2015 Nov 5. Epilepsia. 2015. PMID: 26537434 Free article.
The phenotypic spectrum of SCN8A encephalopathy.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP. Larsen J, et al. Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7. Neurology. 2015. PMID: 25568300 Free PMC article.
Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy.
Mosbech MB, Olsen AS, Neess D, Ben-David O, Klitten LL, Larsen J, Sabers A, Vissing J, Nielsen JE, Hasholt L, Klein AD, Tsoory MM, Hjalgrim H, Tommerup N, Futerman AH, Møller RS, Færgeman NJ. Mosbech MB, et al. Among authors: larsen j. Ann Clin Transl Neurol. 2014 Feb;1(2):88-98. doi: 10.1002/acn3.28. Epub 2014 Jan 13. Ann Clin Transl Neurol. 2014. PMID: 25356388 Free PMC article.
Polyphasic Characterization of the Biocontrol Potential of a Novel Strain of Trichoderma atroviride Isolated from Central Mexico.
González-Martínez KI, Vázquez-Garcidueñas MS, Herrera-Estrella A, Fernández-Pavía SP, Salgado-Garciglia R, Larsen J, Ochoa-Ascencio S, Rodríguez-Alvarado G, Vázquez-Marrufo G. González-Martínez KI, et al. Among authors: larsen j. J Fungi (Basel). 2024 Nov 1;10(11):758. doi: 10.3390/jof10110758. J Fungi (Basel). 2024. PMID: 39590677 Free PMC article.
Physician Preferences in Using Novel Digital Devices for the Management of Atrial Fibrillation-A DAS-CAM III Survey.
Manninger M, Zweiker D, Hovakimyan T, Matusik PT, Conti S, Ollitrault P, Aro A, Mulder BA, Dichtl W, Heeger CH, Ter Bekke R, Gul EE, Weijs B, Rahm AK, Darma A, Evranos B, Sabbag A, Moroka K, Traykov V, Larsen JM, Amoroso GR, Evens S, McIntyre WF, Linz D. Manninger M, et al. Among authors: larsen jm. Clin Cardiol. 2024 Dec;47(12):e24331. doi: 10.1002/clc.24331. Clin Cardiol. 2024. PMID: 39582318 Free PMC article.
Artificial Intelligence in European Medicines Regulation: From Vision to Action. Harnessing the Capabilities of Artificial Intelligence for the Benefit of Public and Animal Health.
Correia Pinheiro L, Arlett P, Roes K, Musuamba Tshinanu F, Westman G, Frias Z, Hamann H, Berenguer Jornet J, Khan I, Larsen J, Broich K, Cooke E. Correia Pinheiro L, et al. Among authors: larsen j. Clin Pharmacol Ther. 2024 Nov 22. doi: 10.1002/cpt.3494. Online ahead of print. Clin Pharmacol Ther. 2024. PMID: 39574375 No abstract available.
3,174 results