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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
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.
Therapeutic antibody targeting of Notch3 signaling prevents mural cell loss in CADASIL.
Machuca-Parra AI, Bigger-Allen AA, Sanchez AV, Boutabla A, Cardona-Vélez J, Amarnani D, Saint-Geniez M, Siebel CW, Kim LA, D'Amore PA, Arboleda-Velasquez JF. Machuca-Parra AI, et al. J Exp Med. 2017 Aug 7;214(8):2271-2282. doi: 10.1084/jem.20161715. Epub 2017 Jul 11. J Exp Med. 2017. PMID: 28698285 Free PMC article.
58 results