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Page 1
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH. Procaccio V, et al. Among authors: juncos j. Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21. Am J Hum Genet. 2006. PMID: 16685646 Free PMC article.
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Verloes A, et al. Among authors: juncos j. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052316 Free PMC article.
Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA; Alzheimer's Disease Genetics Consortium; Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH. Coppola G, et al. Among authors: juncos jl. Hum Mol Genet. 2012 Aug 1;21(15):3500-12. doi: 10.1093/hmg/dds161. Epub 2012 May 3. Hum Mol Genet. 2012. PMID: 22556362 Free PMC article.
Frequency of the TREM2 R47H Variant in Various Neurodegenerative Disorders.
Ayer AH, Wojta K, Ramos EM, Dokuru D, Chen JA, Karydas AM, Papatriantafyllou JD, Agiomyrgiannakis D, Kamtsadeli V, Tsinia N, Sali D, Gylys KH, Agosta F, Filippi M, Small GW, Bennett DA, Gearing M, Juncos JL, Kramer J, Lee SE, Yokoyama JS, Mendez MF, Chui H, Zarow C, Ringman JM, Kilic U, Babacan-Yildiz G, Levey A, DeCarli CS, Cotman CW, Boxer AL, Miller BL, Coppola G. Ayer AH, et al. Among authors: juncos jl. Alzheimer Dis Assoc Disord. 2019 Oct-Dec;33(4):327-330. doi: 10.1097/WAD.0000000000000339. Alzheimer Dis Assoc Disord. 2019. PMID: 31513029 Free PMC article.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
Anti-inflammatory drug use and progressive supranuclear palsy.
Marras C, Cunningham CR, Hou J, Proudfoot J, Standaert DG, Juncos J, Riley D, Reich SG, Hall D, Kluger B, Bordelon Y, Shprecher DR, Litvan I; for ENGENE-PSP. Marras C, et al. Among authors: juncos j. Parkinsonism Relat Disord. 2018 Mar;48:89-92. doi: 10.1016/j.parkreldis.2017.11.346. Epub 2017 Dec 6. Parkinsonism Relat Disord. 2018. PMID: 29307562
Hypertension and progressive supranuclear palsy.
Rabadia SV, Litvan I, Juncos J, Bordelon Y, Riley DE, Standaert D, Reich SG, Hall DA, Kluger B, Shprecher D, Marras C, Jankovic J; ENGENE PSP study. Rabadia SV, et al. Among authors: juncos j. Parkinsonism Relat Disord. 2019 Sep;66:166-170. doi: 10.1016/j.parkreldis.2019.07.036. Epub 2019 Aug 3. Parkinsonism Relat Disord. 2019. PMID: 31420308
139 results