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Page 1
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.
Lee AJ, Wang Y, Alcalay RN, Mejia-Santana H, Saunders-Pullman R, Bressman S, Corvol JC, Brice A, Lesage S, Mangone G, Tolosa E, Pont-Sunyer C, Vilas D, Schüle B, Kausar F, Foroud T, Berg D, Brockmann K, Goldwurm S, Siri C, Asselta R, Ruiz-Martinez J, Mondragón E, Marras C, Ghate T, Giladi N, Mirelman A, Marder K; Michael J. Fox LRRK2 Cohort Consortium. Lee AJ, et al. Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22. Mov Disord. 2017. PMID: 28639421 Free PMC article.
Focal limb dystonia.
Pont-Sunyer C, Martí MJ, Tolosa E. Pont-Sunyer C, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:22-7. doi: 10.1111/j.1468-1331.2010.03046.x. Eur J Neurol. 2010. PMID: 20590804 Review.
Impulse control disorders in Parkinson's disease.
Vilas D, Pont-Sunyer C, Tolosa E. Vilas D, et al. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S80-4. doi: 10.1016/S1353-8020(11)70026-8. Parkinsonism Relat Disord. 2012. PMID: 22166463 Review.
Age at onset in LRRK2-associated PD is modified by SNCA variants.
Botta-Orfila T, Ezquerra M, Pastor P, Fernández-Santiago R, Pont-Sunyer C, Compta Y, Lorenzo-Betancor O, Samaranch L, Martí MJ, Valldeoriola F, Calopa M, Fernández M, Aguilar M, de Fabregas O, Hernández-Vara J, Tolosa E. Botta-Orfila T, et al. J Mol Neurosci. 2012 Sep;48(1):245-7. doi: 10.1007/s12031-012-9820-7. Epub 2012 Jun 6. J Mol Neurosci. 2012. PMID: 22669510
Michael J. Fox Foundation LRRK2 Consortium: geographical differences in returning genetic research data to study participants.
Alcalay RN, Aasly J, Berg D, Bressman S, Brice A, Brockmann K, Chan P, Clark L, Cormier F, Corvol JC, Durr A, Facheris M, Farrer M, Foroud TM, Gasser T, Giladi N, Halter C, Lang A, Langston JW, Marras C, Marti-Masso JF, Ruiz Martinez J, Mejia-Santana H, Mirelman A, Pont-Sunyer C, Orr-Urtreger A, Raymond D, Saunders-Pullman R, Schüle B, Tanner C, Tolosa E, Urkowitz A, Vilas D, Wise A, Marder K. Alcalay RN, et al. Genet Med. 2014 Aug;16(8):644-5. doi: 10.1038/gim.2014.55. Genet Med. 2014. PMID: 25093570 Free PMC article. No abstract available.
The onset of nonmotor symptoms in Parkinson's disease (the ONSET PD study).
Pont-Sunyer C, Hotter A, Gaig C, Seppi K, Compta Y, Katzenschlager R, Mas N, Hofeneder D, Brücke T, Bayés A, Wenzel K, Infante J, Zach H, Pirker W, Posada IJ, Álvarez R, Ispierto L, De Fàbregues O, Callén A, Palasí A, Aguilar M, Martí MJ, Valldeoriola F, Salamero M, Poewe W, Tolosa E. Pont-Sunyer C, et al. Mov Disord. 2015 Feb;30(2):229-37. doi: 10.1002/mds.26077. Epub 2014 Dec 1. Mov Disord. 2015. PMID: 25449044
48 results