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Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.
Miedema SSM, Mol MO, Koopmans FTW, Hondius DC, van Nierop P, Menden K, de Veij Mestdagh CF, van Rooij J, Ganz AB, Paliukhovich I, Melhem S, Li KW, Holstege H, Rizzu P, van Kesteren RE, van Swieten JC, Heutink P, Smit AB. Miedema SSM, et al. Among authors: holstege h. Acta Neuropathol Commun. 2022 Jul 7;10(1):100. doi: 10.1186/s40478-022-01387-8. Acta Neuropathol Commun. 2022. PMID: 35799292 Free PMC article.
Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease.
Louwersheimer E, Ramirez A, Cruchaga C, Becker T, Kornhuber J, Peters O, Heilmann S, Wiltfang J, Jessen F, Visser PJ, Scheltens P, Pijnenburg YA, Teunissen CE, Barkhof F, van Swieten JC, Holstege H, Van der Flier WM; Alzheimer's Disease Neuroimaging Initiative and Dementia Competence Network. Louwersheimer E, et al. Among authors: holstege h. Neurobiol Aging. 2015 Mar;36(3):1605.e13-20. doi: 10.1016/j.neurobiolaging.2014.12.007. Epub 2014 Dec 11. Neurobiol Aging. 2015. PMID: 25659857
PLD3 variants in population studies.
van der Lee SJ, Holstege H, Wong TH, Jakobsdottir J, Bis JC, Chouraki V, van Rooij JG, Grove ML, Smith AV, Amin N, Choi SH, Beiser AS, Garcia ME, van IJcken WF, Pijnenburg YA, Louwersheimer E, Brouwer RW, van den Hout MC, Oole E, Eirkisdottir G, Levy D, Rotter JI, Emilsson V, O'Donnell CJ, Aspelund T, Uitterlinden AG, Launer LJ, Hofman A, Boerwinkle E, Psaty BM, DeStefano AL, Scheltens P, Seshadri S, van Swieten JC, Gudnason V, van der Flier WM, Ikram MA, van Duijn CM. van der Lee SJ, et al. Among authors: holstege h. Nature. 2015 Apr 2;520(7545):E2-3. doi: 10.1038/nature14038. Nature. 2015. PMID: 25832410 Free PMC article. No abstract available.
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds.
Cohn-Hokke PE, Holstege H, Weiss MM, van der Flier WM, Barkhof F, Sistermans EA, Pijnenburg YA, van Swieten JC, Meijers-Heijboer H, Scheltens P. Cohn-Hokke PE, et al. Among authors: holstege h. Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):220-226. doi: 10.1002/ajmg.b.32468. Epub 2016 Jun 8. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 27277535 Free PMC article.
ABCA7 p.G215S as potential protective factor for Alzheimer's disease.
Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, Almeida MR; ARUK Consortium; Holstege H, Louwersheimer E, van der Flier WM, Scheltens P, Van Swieten JC, Santana I, Oliveira C, Morgan K, Powell JF, Kauwe JS, Cruchaga C, Goate AM, Singleton AB, Guerreiro R, Hardy J. Sassi C, et al. Among authors: holstege h. Neurobiol Aging. 2016 Oct;46:235.e1-9. doi: 10.1016/j.neurobiolaging.2016.04.004. Epub 2016 Apr 20. Neurobiol Aging. 2016. PMID: 27289440 Free PMC article.
Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.
Louwersheimer E, Cohn-Hokke PE, Pijnenburg YA, Weiss MM, Sistermans EA, Rozemuller AJ, Hulsman M, van Swieten JC, van Duijn CM, Barkhof F, Koene T, Scheltens P, Van der Flier WM, Holstege H. Louwersheimer E, et al. Among authors: holstege h. J Alzheimers Dis. 2017;56(1):63-74. doi: 10.3233/JAD-160091. J Alzheimers Dis. 2017. PMID: 27911290 Free PMC article.
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.
Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Holstege H, et al. Eur J Hum Genet. 2017 Aug;25(8):973-981. doi: 10.1038/ejhg.2017.87. Epub 2017 May 24. Eur J Hum Genet. 2017. PMID: 28537274 Free PMC article.
EIF2AK3 variants in Dutch patients with Alzheimer's disease.
Wong TH, van der Lee SJ, van Rooij JGJ, Meeter LHH, Frick P, Melhem S, Seelaar H, Ikram MA, Rozemuller AJ, Holstege H, Hulsman M, Uitterlinden A, Neumann M, Hoozemans JJM, van Duijn CM, Rademakers R, van Swieten JC. Wong TH, et al. Among authors: holstege h. Neurobiol Aging. 2019 Jan;73:229.e11-229.e18. doi: 10.1016/j.neurobiolaging.2018.08.016. Epub 2018 Aug 24. Neurobiol Aging. 2019. PMID: 30314817 Free article.
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A,… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: holstege h. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
85 results