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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: smolders s. Neurology. 2014 Nov 18;83(21):1906-13. doi: 10.1212/WNL.0000000000001012. Epub 2014 Oct 17. Neurology. 2014. PMID: 25326098 Free PMC article.
Reply: ATP10B and the risk for Parkinson's disease.
Smolders S, Van Broeckhoven C. Smolders S, et al. Acta Neuropathol. 2020 Sep;140(3):403-404. doi: 10.1007/s00401-020-02173-3. Epub 2020 Jun 15. Acta Neuropathol. 2020. PMID: 32542503 No abstract available.
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G, Pals P, Hamouda NN, Engelborghs S, Martin JJ, Eggermont J, De Deyn PP, Cras P, Baekelandt V, Vangheluwe P, Van Broeckhoven C; BELNEU consortium. Martin S, et al. Among authors: smolders s. Acta Neuropathol. 2020 Jun;139(6):1001-1024. doi: 10.1007/s00401-020-02145-7. Epub 2020 Mar 14. Acta Neuropathol. 2020. PMID: 32172343 Free PMC article.
Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson's disease.
Smolders S, Philtjens S, Crosiers D, Sieben A, Hens E, Heeman B, Van Mossevelde S, Pals P, Asselbergh B, Dos Santos Dias R, Vermeiren Y, Vandenberghe R, Engelborghs S, De Deyn PP, Martin JJ, Cras P, Annaert W, Van Broeckhoven C; BELNEU consortium. Smolders S, et al. Acta Neuropathol Commun. 2021 Feb 12;9(1):25. doi: 10.1186/s40478-021-01121-w. Acta Neuropathol Commun. 2021. PMID: 33579389 Free PMC article.
46 results