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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.
Blauwendraat C, Wilke C, Simón-Sánchez J, Jansen IE, Reifschneider A, Capell A, Haass C, Castillo-Lizardo M, Biskup S, Maetzler W, Rizzu P, Heutink P, Synofzik M. Blauwendraat C, et al. Among authors: jansen ie. Genet Med. 2018 Feb;20(2):240-249. doi: 10.1038/gim.2017.102. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749476 Free PMC article.
C9orf72; abnormal RNA expression is the key.
Heutink P, Jansen IE, Lynes EM. Heutink P, et al. Among authors: jansen ie. Exp Neurol. 2014 Dec;262 Pt B:102-10. doi: 10.1016/j.expneurol.2014.05.020. Epub 2014 May 27. Exp Neurol. 2014. PMID: 24873727 Review.
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M. Blauwendraat C, et al. Among authors: jansen ie. Neurobiol Aging. 2016 Jan;37:208.e11-208.e17. doi: 10.1016/j.neurobiolaging.2015.09.016. Epub 2015 Sep 30. Neurobiol Aging. 2016. PMID: 26522186
CHCHD2 and Parkinson's disease.
Jansen IE, Bras JM, Lesage S, Schulte C, Gibbs JR, Nalls MA, Brice A, Wood NW, Morris H, Hardy JA, Singleton AB, Gasser T, Heutink P, Sharma M; IPDGC. Jansen IE, et al. Lancet Neurol. 2015 Jul;14(7):678-9. doi: 10.1016/S1474-4422(15)00094-0. Lancet Neurol. 2015. PMID: 26067110 Free article. No abstract available.
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance.
Lubbe SJ, Escott-Price V, Gibbs JR, Nalls MA, Bras J, Price TR, Nicolas A, Jansen IE, Mok KY, Pittman AM, Tomkins JE, Lewis PA, Noyce AJ, Lesage S, Sharma M, Schiff ER, Levine AP, Brice A, Gasser T, Hardy J, Heutink P, Wood NW, Singleton AB, Williams NM, Morris HR; for International Parkinson’s Disease Genomics Consortium. Lubbe SJ, et al. Among authors: jansen ie. Hum Mol Genet. 2016 Dec 15;25(24):5483-5489. doi: 10.1093/hmg/ddw348. Hum Mol Genet. 2016. PMID: 27798102 Free PMC article.
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Jansen IE, Ye H, Heetveld S, Lechler MC, Michels H, Seinstra RI, Lubbe SJ, Drouet V, Lesage S, Majounie E, Gibbs JR, Nalls MA, Ryten M, Botia JA, Vandrovcova J, Simon-Sanchez J, Castillo-Lizardo M, Rizzu P, Blauwendraat C, Chouhan AK, Li Y, Yogi P, Amin N, van Duijn CM; International Parkinson’s Disease Genetics Consortium (IPGDC); Morris HR, Brice A, Singleton AB, David DC, Nollen EA, Jain S, Shulman JM, Heutink P. Jansen IE, et al. Genome Biol. 2017 Jan 30;18(1):22. doi: 10.1186/s13059-017-1147-9. Genome Biol. 2017. PMID: 28137300 Free PMC article.
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.
Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, Karlsen TH, Lesage S, Morris HR, Brice A, Wood NW, Heutink P, Hardy J, Singleton AB, Dale AM, Gasser T, Andreassen OA, Sharma M; International Parkinson’s Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC), and United Kingdom Brain Expression Consortium (UKBEC) Investigators. Witoelar A, et al. Among authors: jansen ie. JAMA Neurol. 2017 Jul 1;74(7):780-792. doi: 10.1001/jamaneurol.2017.0469. JAMA Neurol. 2017. PMID: 28586827 Free PMC article.
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J; International Parkinson’s Disease Genomics Consortium (IPDGC); Heutink P, Shulman JM. Robak LA, et al. Among authors: jansen ie. Brain. 2017 Dec 1;140(12):3191-3203. doi: 10.1093/brain/awx285. Brain. 2017. PMID: 29140481 Free PMC article.
109 results