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279 results

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Page 1
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: moller rs. 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.
Fluorescently labelled bovine acyl-CoA-binding protein acting as an acyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use in measuring free acyl-CoA esters and non-esterified fatty acids.
Wadum MC, Villadsen JK, Feddersen S, Møller RS, Neergaard TB, Kragelund BB, Højrup P, Faergeman NJ, Knudsen J. Wadum MC, et al. Among authors: moller rs. Biochem J. 2002 Jul 1;365(Pt 1):165-72. doi: 10.1042/BJ20011727. Biochem J. 2002. PMID: 12071849 Free PMC article.
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
Svenstrup K, Møller RS, Christensen J, Budtz-Jørgensen E, Gilling M, Nielsen JE. Svenstrup K, et al. Among authors: moller rs. Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22. Eur J Neurol. 2011. PMID: 21599812
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium; Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium; Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. Reinthaler EM, et al. Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16. Hum Mol Genet. 2014. PMID: 24939913 Free article.
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.
Kaalund SS, Venø MT, Bak M, Møller RS, Laursen H, Madsen F, Broholm H, Quistorff B, Uldall P, Tommerup N, Kauppinen S, Sabers A, Fluiter K, Møller LB, Nossent AY, Silahtaroglu A, Kjems J, Aronica E, Tümer Z. Kaalund SS, et al. Among authors: moller lb, moller rs. Epilepsia. 2014 Dec;55(12):2017-27. doi: 10.1111/epi.12839. Epub 2014 Nov 19. Epilepsia. 2014. PMID: 25410734 Free article.
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG. Gardella E, et al. Among authors: moller rs. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13. Ann Neurol. 2016. PMID: 26677014
Reply.
Gardella E, Beniczky S, Møller RS, Becker F, Lemke JR, Syrbe S, Eiberg H, Bast T, Steinhoff B, Nürnberg P, Gellert P, Dahl HA, Weckhuysen S, Heron SE, Dibbens LM, Hjalgrim H, Lerche H, Weber YG. Gardella E, et al. Among authors: moller rs. Ann Neurol. 2016 Jul;80(1):168-9. doi: 10.1002/ana.24669. Epub 2016 May 10. Ann Neurol. 2016. PMID: 27098683 No abstract available.
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Møller RS, et al. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781031 Free PMC article.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.
279 results