Kosik KS - Search Results

1

E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.

Lendon CL, Martinez A, Behrens IM, Kosik KS, Madrigal L, Norton J, Neuman R, Myers A, Busfield F, Wragg M, Arcos M, Arango Viana JC, Ossa J, Ruiz A, Goate AM, Lopera F. Lendon CL, et al. Among authors: kosik ks. Hum Mutat. 1997;10(3):186-95. doi: 10.1002/(SICI)1098-1004(1997)10:3<186::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1997. PMID: 9298817

2

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.

Lemere CA, Lopera F, Kosik KS, Lendon CL, Ossa J, Saido TC, Yamaguchi H, Ruiz A, Martinez A, Madrigal L, Hincapie L, Arango JC, Anthony DC, Koo EH, Goate AM, Selkoe DJ, Arango JC. Lemere CA, et al. Among authors: kosik ks. Nat Med. 1996 Oct;2(10):1146-50. doi: 10.1038/nm1096-1146. Nat Med. 1996. PMID: 8837617

3

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

Lopera F, Ardilla A, Martínez A, Madrigal L, Arango-Viana JC, Lemere CA, Arango-Lasprilla JC, Hincapíe L, Arcos-Burgos M, Ossa JE, Behrens IM, Norton J, Lendon C, Goate AM, Ruiz-Linares A, Rosselli M, Kosik KS. Lopera F, et al. Among authors: kosik ks. JAMA. 1997 Mar 12;277(10):793-9. JAMA. 1997. PMID: 9052708

4

The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.

Gómez-Isla T, Growdon WB, McNamara MJ, Nochlin D, Bird TD, Arango JC, Lopera F, Kosik KS, Lantos PL, Cairns NJ, Hyman BT. Gómez-Isla T, et al. Among authors: kosik ks. Brain. 1999 Sep;122 ( Pt 9):1709-19. doi: 10.1093/brain/122.9.1709. Brain. 1999. PMID: 10468510

5

Cognitive decline in patients with familial Alzheimer's disease associated with E280a presenilin-1 mutation: a longitudinal study.

Rosselli MC, Ardila AC, Moreno SC, Standish VC, Arango-Lasprilla JC, Tirado VM, Ossa JM, Goate AM, Kosik KS, Lopera F. Rosselli MC, et al. Among authors: kosik ks. J Clin Exp Neuropsychol. 2000 Aug;22(4):483-95. doi: 10.1076/1380-3395(200008)22:4;1-0;FT483. J Clin Exp Neuropsychol. 2000. PMID: 10923058

6

Presenilin-1-associated abnormalities in regional cerebral perfusion.

Johnson KA, Lopera F, Jones K, Becker A, Sperling R, Hilson J, Londono J, Siegert I, Arcos M, Moreno S, Madrigal L, Ossa J, Pineda N, Ardila A, Roselli M, Albert MS, Kosik KS, Rios A. Johnson KA, et al. Among authors: kosik ks. Neurology. 2001 Jun 12;56(11):1545-51. doi: 10.1212/wnl.56.11.1545. Neurology. 2001. PMID: 11402113

7

C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.

Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS. Arboleda-Velasquez JF, et al. Among authors: kosik ks. Neurology. 2002 Jul 23;59(2):277-9. doi: 10.1212/wnl.59.2.277. Neurology. 2002. PMID: 12136071

8

Neuropsychological profile of a large kindred with familial Alzheimer's disease caused by the E280A single presenilin-1 mutation.

Ardila A, Lopera F, Rosselli M, Moreno S, Madrigal L, Arango-Lasprilla JC, Arcos M, Murcia C, Arango-Viana JC, Ossa J, Goate A, Kosik KS. Ardila A, et al. Among authors: kosik ks. Arch Clin Neuropsychol. 2000 Aug;15(6):515-28. Arch Clin Neuropsychol. 2000. PMID: 14590205

9

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.

Vélez JI, Chandrasekharappa SC, Henao E, Martinez AF, Harper U, Jones M, Solomon BD, Lopez L, Garcia G, Aguirre-Acevedo DC, Acosta-Baena N, Correa JC, Lopera-Gómez CM, Jaramillo-Elorza MC, Rivera D, Kosik KS, Schork NJ, Swanson JM, Lopera F, Arcos-Burgos M. Vélez JI, et al. Among authors: kosik ks. Mol Psychiatry. 2013 May;18(5):568-75. doi: 10.1038/mp.2012.81. Epub 2012 Jun 19. Mol Psychiatry. 2013. PMID: 22710270 Free PMC article.

10

Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.

Lalli MA, Garcia G, Madrigal L, Arcos-Burgos M, Arcila ML, Kosik KS, Lopera F. Lalli MA, et al. Among authors: kosik ks. Hum Mutat. 2012 Dec;33(12):1630-4. doi: 10.1002/humu.22167. Epub 2012 Aug 10. Hum Mutat. 2012. PMID: 22829467 Free PMC article.

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