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The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation.
Nelson MR, Liu P, Agrawal A, Yip O, Blumenfeld J, Traglia M, Kim MJ, Koutsodendris N, Rao A, Grone B, Hao Y, Yoon SY, Xu Q, De Leon S, Choenyi T, Thomas R, Lopera F, Quiroz YT, Arboleda-Velasquez JF, Reiman EM, Mahley RW, Huang Y. Nelson MR, et al. Among authors: lopera f. Nat Neurosci. 2023 Dec;26(12):2104-2121. doi: 10.1038/s41593-023-01480-8. Epub 2023 Nov 13. Nat Neurosci. 2023. PMID: 37957317 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. Among authors: lopera f. Neurology. 2002 Jul 23;59(2):277-9. doi: 10.1212/wnl.59.2.277. Neurology. 2002. PMID: 12136071
Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families.
Palacio JD, Castellanos FX, Pineda DA, Lopera F, Arcos-Burgos M, Quiroz YT, Henao GC, Puerta IC, Ramírez DL, Rapoport JL, Bailey-Wilson J, Berg K, Muenke M. Palacio JD, et al. Among authors: lopera f. J Am Acad Child Adolesc Psychiatry. 2004 Dec;43(12):1506-15. doi: 10.1097/01.chi.0000142279.79805.dc. J Am Acad Child Adolesc Psychiatry. 2004. PMID: 15564820
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. Among authors: lopera f. 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 fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study.
Reiman EM, Quiroz YT, Fleisher AS, Chen K, Velez-Pardo C, Jimenez-Del-Rio M, Fagan AM, Shah AR, Alvarez S, Arbelaez A, Giraldo M, Acosta-Baena N, Sperling RA, Dickerson B, Stern CE, Tirado V, Munoz C, Reiman RA, Huentelman MJ, Alexander GE, Langbaum JB, Kosik KS, Tariot PN, Lopera F. Reiman EM, et al. Among authors: lopera f. Lancet Neurol. 2012 Dec;11(12):1048-56. doi: 10.1016/S1474-4422(12)70228-4. Epub 2012 Nov 6. Lancet Neurol. 2012. PMID: 23137948 Free PMC article.
286 results