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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Among authors: sleegers k. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C; GEO-PD Consortium. Theuns J, et al. Among authors: sleegers k. Neurology. 2014 Nov 18;83(21):1906-13. doi: 10.1212/WNL.0000000000001012. Epub 2014 Oct 17. Neurology. 2014. PMID: 25326098 Free PMC article.
A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.
Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C. Bogaerts V, et al. Among authors: sleegers k. Brain. 2007 Sep;130(Pt 9):2277-91. doi: 10.1093/brain/awm167. Epub 2007 Aug 6. Brain. 2007. PMID: 17681982
Progranulin genetic variability contributes to amyotrophic lateral sclerosis.
Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C. Sleegers K, et al. Neurology. 2008 Jul 22;71(4):253-9. doi: 10.1212/01.wnl.0000289191.54852.75. Epub 2008 Jan 9. Neurology. 2008. PMID: 18184915
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
Brouwers N, Sleegers K, Engelborghs S, Maurer-Stroh S, Gijselinck I, van der Zee J, Pickut BA, Van den Broeck M, Mattheijssens M, Peeters K, Schymkowitz J, Rousseau F, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C. Brouwers N, et al. Among authors: sleegers k. Neurology. 2008 Aug 26;71(9):656-64. doi: 10.1212/01.wnl.0000319688.89790.7a. Epub 2008 Jun 18. Neurology. 2008. PMID: 18565828
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Bäumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: sleegers k. Lancet Neurol. 2012 Jan;11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7. Epub 2011 Dec 7. Lancet Neurol. 2012. PMID: 22154785
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, Van Cauwenberghe C, Vermeulen S, Van den Broeck M, Laureys A, Peeters K, Mattheijssens M, Vandenbulcke M, Vandenberghe R, Martin JJ, De Deyn PP, Cras P, Van Broeckhoven C; Belgian Neurology Consortium. Van den Bossche T, et al. Among authors: sleegers k. Neurology. 2016 Jun 7;86(23):2126-33. doi: 10.1212/WNL.0000000000002628. Epub 2016 Apr 1. Neurology. 2016. PMID: 27037232 Free PMC article.
Progranulin variability has no major role in Parkinson disease genetic etiology.
Nuytemans K, Pals P, Sleegers K, Engelborghs S, Corsmit E, Peeters K, Pickut B, Mattheijssens M, Cras P, De Deyn PP, Theuns J, Van Broeckhoven C. Nuytemans K, et al. Among authors: sleegers k. Neurology. 2008 Oct 7;71(15):1147-51. doi: 10.1212/01.wnl.0000327563.10320.2b. Neurology. 2008. PMID: 18838661
193 results