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VPS35 mutations in Parkinson disease.
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ. Vilariño-Güell C, et al. Am J Hum Genet. 2011 Jul 15;89(1):162-7. doi: 10.1016/j.ajhg.2011.06.001. Am J Hum Genet. 2011. PMID: 21763482 Free PMC article.
Translation initiator EIF4G1 mutations in familial Parkinson disease.
Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Chartier-Harlin MC, et al. Am J Hum Genet. 2011 Sep 9;89(3):398-406. doi: 10.1016/j.ajhg.2011.08.009. Am J Hum Genet. 2011. PMID: 21907011 Free PMC article.
VPS35 and DNAJC13 disease-causing variants in essential tremor.
Rajput A, Ross JP, Bernales CQ, Rayaprolu S, Soto-Ortolaza AI, Ross OA, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput AH, Vilariño-Güell C. Rajput A, et al. Eur J Hum Genet. 2015 Jun;23(6):887-8. doi: 10.1038/ejhg.2014.164. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118025 Free PMC article.
Investigating FUS variation in Parkinson's disease.
Labbé C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA. Labbé C, et al. Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1(0 1):S147-9. doi: 10.1016/S1353-8020(13)70035-X. Parkinsonism Relat Disord. 2014. PMID: 24262168 Free PMC article. Review.
LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.
Vilariño-Güell C, Ross OA, Wider C, Jasinska-Myga B, Cobb SA, Soto-Ortolaza AI, Kachergus JM, Keeling BH, Dachsel JC, Melrose HL, Behrouz B, Wszolek ZK, Uitti RJ, Aasly JO, Rajput A, Farrer MJ. Vilariño-Güell C, et al. Parkinsonism Relat Disord. 2010 Feb;16(2):109-11. doi: 10.1016/j.parkreldis.2009.08.006. Epub 2009 Aug 31. Parkinsonism Relat Disord. 2010. PMID: 19720553 Free PMC article.
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Dachsel JC, Nishioka K, Vilariño-Güell C, Lincoln SJ, Soto-Ortolaza AI, Kachergus J, Hinkle KM, Heckman MG, Jasinska-Myga B, Taylor JP, Dickson DW, Gibson RA, Hentati F, Ross OA, Farrer MJ. Dachsel JC, et al. Mech Ageing Dev. 2010 Mar;131(3):210-4. doi: 10.1016/j.mad.2010.01.009. Epub 2010 Feb 6. Mech Ageing Dev. 2010. PMID: 20144646 Free PMC article.
TARDBP mutations in Parkinson's disease.
Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. Rayaprolu S, et al. Parkinsonism Relat Disord. 2013 Mar;19(3):312-5. doi: 10.1016/j.parkreldis.2012.11.003. Epub 2012 Dec 8. Parkinsonism Relat Disord. 2013. PMID: 23231971 Free PMC article.
SLC1A2 rs3794087 does not associate with essential tremor.
Ross JP, Rayaprolu S, Bernales CQ, Soto-Ortolaza AI, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput A, Rajput AH, Rajput ML, Ross OA, Vilariño-Güell C. Ross JP, et al. Neurobiol Aging. 2014 Apr;35(4):935.e9-10. doi: 10.1016/j.neurobiolaging.2013.09.022. Epub 2013 Oct 16. Neurobiol Aging. 2014. PMID: 24139280 Free PMC article.
Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.
Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, Lynch T, Wszolek ZK, Silburn PA, Mellick GD, Ritz B, Scherzer CR, Zabetian CP, Factor SA, Breheny PJ, Payami H. Hill-Burns EM, et al. Among authors: soto ortolaza ai. Hum Mol Genet. 2016 Sep 1;25(17):3849-3862. doi: 10.1093/hmg/ddw206. Epub 2016 Jul 11. Hum Mol Genet. 2016. PMID: 27402877 Free PMC article.
62 results