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Page 1
Presenile cataract: consider cholestanol.
Tészás A, Pfund Z, Morava E, Kosztolányi G, Sistermans E, Wevers RA, Kellermayer R. Tészás A, et al. Among authors: sistermans e. Arch Ophthalmol. 2006 Oct;124(10):1490-2. doi: 10.1001/archopht.124.10.1490. Arch Ophthalmol. 2006. PMID: 17030721 No abstract available.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: sistermans ea. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
Lange MC, Zétola VF, Teive HA, Scola RH, Trentin AP, Zavala JA, Pereira ER, Raskin S, Werneck LC, Sistermans EA. Lange MC, et al. Arq Neuropsiquiatr. 2004 Dec;62(4):1085-9. doi: 10.1590/s0004-282x2004000600028. Epub 2004 Dec 15. Arq Neuropsiquiatr. 2004. PMID: 15608974 Free article.
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: sistermans ea. 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.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, Bodamer O, Orcesi S, Oberstein SA, Sistermans EA, Yntema HG, Bonnemann C, Waldman AT, van der Knaap MS. Vanderver A, et al. Am J Med Genet A. 2014 Mar;164A(3):627-33. doi: 10.1002/ajmg.a.36309. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375884 Free PMC article.
166 results