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Page 1
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT. Arboleda-Velasquez JF, et al. Nat Med. 2019 Nov;25(11):1680-1683. doi: 10.1038/s41591-019-0611-3. Epub 2019 Nov 4. Nat Med. 2019. PMID: 31686034 Free PMC article.
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. Neurology. 2002 Jul 23;59(2):277-9. doi: 10.1212/wnl.59.2.277. Neurology. 2002. PMID: 12136071
CADASIL mutations impair Notch3 glycosylation by Fringe.
Arboleda-Velasquez JF, Rampal R, Fung E, Darland DC, Liu M, Martinez MC, Donahue CP, Navarro-Gonzalez MF, Libby P, D'Amore PA, Aikawa M, Haltiwanger RS, Kosik KS. Arboleda-Velasquez JF, et al. Hum Mol Genet. 2005 Jun 15;14(12):1631-9. doi: 10.1093/hmg/ddi171. Epub 2005 Apr 27. Hum Mol Genet. 2005. PMID: 15857853
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.
Arboleda-Velasquez JF, Manent J, Lee JH, Tikka S, Ospina C, Vanderburg CR, Frosch MP, Rodríguez-Falcón M, Villen J, Gygi S, Lopera F, Kalimo H, Moskowitz MA, Ayata C, Louvi A, Artavanis-Tsakonas S. Arboleda-Velasquez JF, et al. Proc Natl Acad Sci U S A. 2011 May 24;108(21):E128-35. doi: 10.1073/pnas.1101964108. Epub 2011 May 9. Proc Natl Acad Sci U S A. 2011. PMID: 21555590 Free PMC article.
Brain Imaging and Blood Biomarker Abnormalities in Children With Autosomal Dominant Alzheimer Disease: A Cross-Sectional Study.
Quiroz YT, Schultz AP, Chen K, Protas HD, Brickhouse M, Fleisher AS, Langbaum JB, Thiyyagura P, Fagan AM, Shah AR, Muniz M, Arboleda-Velasquez JF, Munoz C, Garcia G, Acosta-Baena N, Giraldo M, Tirado V, Ramírez DL, Tariot PN, Dickerson BC, Sperling RA, Lopera F, Reiman EM. Quiroz YT, et al. JAMA Neurol. 2015 Aug;72(8):912-9. doi: 10.1001/jamaneurol.2015.1099. JAMA Neurol. 2015. PMID: 26121081 Free PMC article.
Blood biomarkers in a mouse model of CADASIL.
Primo V, Graham M, Bigger-Allen AA, Chick JM, Ospina C, Quiroz YT, Manent J, Gygi SP, Lopera F, D'Amore PA, Arboleda-Velasquez JF. Primo V, et al. Brain Res. 2016 Aug 1;1644:118-26. doi: 10.1016/j.brainres.2016.05.008. Epub 2016 May 10. Brain Res. 2016. PMID: 27174004 Free article.
Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.
Lam JD, Oh DJ, Wong LL, Amarnani D, Park-Windhol C, Sanchez AV, Cardona-Velez J, McGuone D, Stemmer-Rachamimov AO, Eliott D, Bielenberg DR, van Zyl T, Shen L, Gai X, D'Amore PA, Kim LA, Arboleda-Velasquez JF. Lam JD, et al. Diabetes. 2017 Jul;66(7):1950-1956. doi: 10.2337/db16-1035. Epub 2017 Apr 11. Diabetes. 2017. PMID: 28400392 Free PMC article.
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.
Ung C, Sanchez AV, Shen L, Davoudi S, Ahmadi T, Navarro-Gomez D, Chen CJ, Hancock H, Penman A, Hoadley S, Consugar M, Restrepo C, Shah VA, Arboleda-Velasquez JF, Sobrin L, Gai X, Kim LA. Ung C, et al. Vision Res. 2017 Oct;139:168-176. doi: 10.1016/j.visres.2017.03.007. Epub 2017 May 9. Vision Res. 2017. PMID: 28431867 Free PMC article. Review.
51 results