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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.
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.
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.
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
A brain machine interface framework for exploring proactive control of smart environments.
Braun JM, Fauth M, Berger M, Huang NS, Simeoni E, Gaeta E, Rodrigues do Carmo R, García-Betances RI, Arredondo Waldmeyer MT, Gail A, Larsen JC, Manoonpong P, Tetzlaff C, Wörgötter F. Braun JM, et al. Among authors: larsen jc. Sci Rep. 2024 May 14;14(1):11054. doi: 10.1038/s41598-024-60280-7. Sci Rep. 2024. PMID: 38744976 Free article.
Therapeutic developments for neurodegenerative GM1 gangliosidosis.
Foster D, Williams L, Arnold N, Larsen J. Foster D, et al. Among authors: larsen j. Front Neurosci. 2024 Apr 26;18:1392683. doi: 10.3389/fnins.2024.1392683. eCollection 2024. Front Neurosci. 2024. PMID: 38737101 Free PMC article. Review.
Micrometeorite collections: a review and their current status.
van Ginneken M, Wozniakiewicz PJ, Brownlee DE, Debaille V, Della Corte V, Delauche L, Duprat J, Engrand C, Folco L, Fries M, Gattacceca J, Genge MJ, Goderis S, Gounelle M, Harvey RP, Jonker G, Krämer Ruggiu L, Larsen J, Lever JH, Noguchi T, Peterson S, Rochette P, Rojas J, Rotundi A, Rudraswami NG, Suttle MD, Taylor S, Van Maldeghem F, Zolensky M. van Ginneken M, et al. Among authors: larsen j. Philos Trans A Math Phys Eng Sci. 2024 Jun 9;382(2273):20230195. doi: 10.1098/rsta.2023.0195. Epub 2024 May 13. Philos Trans A Math Phys Eng Sci. 2024. PMID: 38736337 Free article. Review.
3,135 results