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The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk.
Hooli BV, Parrado AR, Mullin K, Yip WK, Liu T, Roehr JT, Qiao D, Jessen F, Peters O, Becker T, Ramirez A, Lange C, Bertram L, Tanzi RE. Hooli BV, et al. Among authors: ramirez a. Neurology. 2014 Oct 7;83(15):1353-8. doi: 10.1212/WNL.0000000000000855. Epub 2014 Sep 3. Neurology. 2014. PMID: 25186855 Free PMC article.
Frequency of the D620N mutation in VPS35 in Parkinson disease.
Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostić VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K. Kumar KR, et al. Among authors: ramirez a. Arch Neurol. 2012 Oct;69(10):1360-4. doi: 10.1001/archneurol.2011.3367. Arch Neurol. 2012. PMID: 22801713
Glucocerebrosidase mutations in a Serbian Parkinson's disease population.
Kumar KR, Ramirez A, Göbel A, Kresojević N, Svetel M, Lohmann K, M Sue C, Rolfs A, Mazzulli JR, Alcalay RN, Krainc D, Klein C, Kostic V, Grünewald A. Kumar KR, et al. Among authors: ramirez a. Eur J Neurol. 2013 Feb;20(2):402-5. doi: 10.1111/j.1468-1331.2012.03817.x. Epub 2012 Jul 20. Eur J Neurol. 2013. PMID: 22812582
TREM2 variants in Alzheimer's disease.
Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group. Guerreiro R, et al. N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. N Engl J Med. 2013. PMID: 23150934 Free PMC article.
Neurokinin3 receptor as a target to predict and improve learning and memory in the aged organism.
de Souza Silva MA, Lenz B, Rotter A, Biermann T, Peters O, Ramirez A, Jessen F, Maier W, Hüll M, Schröder J, Frölich L, Teipel S, Gruber O, Kornhuber J, Huston JP, Müller CP, Schäble S. de Souza Silva MA, et al. Among authors: ramirez a. Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):15097-102. doi: 10.1073/pnas.1306884110. Epub 2013 Aug 27. Proc Natl Acad Sci U S A. 2013. PMID: 23983264 Free PMC article.
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Doss S, et al. Among authors: ramirez a. J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202787
A one-degree-of-freedom test for supra-multiplicativity of SNP effects.
Herold C, Ramirez A, Drichel D, Lacour A, Vaitsiakhovich T, Nöthen MM, Jessen F, Maier W, Becker T. Herold C, et al. Among authors: ramirez a. PLoS One. 2013 Oct 30;8(10):e78038. doi: 10.1371/journal.pone.0078038. eCollection 2013. PLoS One. 2013. PMID: 24205078 Free PMC article.
Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene.
Ruiz A, Heilmann S, Becker T, Hernández I, Wagner H, Thelen M, Mauleón A, Rosende-Roca M, Bellenguez C, Bis JC, Harold D, Gerrish A, Sims R, Sotolongo-Grau O, Espinosa A, Alegret M, Arrieta JL, Lacour A, Leber M, Becker J, Lafuente A, Ruiz S, Vargas L, Rodríguez O, Ortega G, Dominguez MA; IGAP; Mayeux R, Haines JL, Pericak-Vance MA, Farrer LA, Schellenberg GD, Chouraki V, Launer LJ, van Duijn C, Seshadri S, Antúnez C, Breteler MM, Serrano-Ríos M, Jessen F, Tárraga L, Nöthen MM, Maier W, Boada M, Ramírez A. Ruiz A, et al. Among authors: ramirez a. Transl Psychiatry. 2014 Feb 4;4(2):e358. doi: 10.1038/tp.2014.2. Transl Psychiatry. 2014. PMID: 24495969 Free PMC article.
2,654 results