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Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations.
González-Casacuberta I, Morén C, Juárez-Flores DL, Esteve-Codina A, Sierra C, Catalán-García M, Guitart-Mampel M, Tobías E, Milisenda JC, Pont-Sunyer C, Martí MJ, Cardellach F, Tolosa E, Artuch R, Ezquerra M, Fernández-Santiago R, Garrabou G. González-Casacuberta I, et al. Neurobiol Aging. 2018 May;65:206-216. doi: 10.1016/j.neurobiolaging.2018.01.021. Epub 2018 Feb 7. Neurobiol Aging. 2018. PMID: 29501959
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.
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
Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson's disease.
Romaní-Aumedes J, Canal M, Martín-Flores N, Sun X, Pérez-Fernández V, Wewering S, Fernández-Santiago R, Ezquerra M, Pont-Sunyer C, Lafuente A, Alberch J, Luebbert H, Tolosa E, Levy OA, Greene LA, Malagelada C. Romaní-Aumedes J, et al. Cell Death Dis. 2014 Aug 7;5(8):e1364. doi: 10.1038/cddis.2014.333. Cell Death Dis. 2014. PMID: 25101677 Free PMC article.
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
Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers.
Pont-Sunyer C, Iranzo A, Gaig C, Fernández-Arcos A, Vilas D, Valldeoriola F, Compta Y, Fernández-Santiago R, Fernández M, Bayés A, Calopa M, Casquero P, de Fàbregues O, Jaumà S, Puente V, Salamero M, José Martí M, Santamaría J, Tolosa E. Pont-Sunyer C, et al. PLoS One. 2015 Jul 15;10(7):e0132368. doi: 10.1371/journal.pone.0132368. eCollection 2015. PLoS One. 2015. PMID: 26177462 Free PMC article.
Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers.
Vilas D, Ispierto L, Álvarez R, Pont-Sunyer C, Martí MJ, Valldeoriola F, Compta Y, de Fabregues O, Hernández-Vara J, Puente V, Calopa M, Jaumà S, Campdelacreu J, Aguilar M, Quílez P, Casquero P, Lomeña F, Ríos J, Tolosa E. Vilas D, et al. Parkinsonism Relat Disord. 2015 Oct;21(10):1170-6. doi: 10.1016/j.parkreldis.2015.08.007. Epub 2015 Aug 12. Parkinsonism Relat Disord. 2015. PMID: 26306001
Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease.
Marras C, Alcalay RN, Caspell-Garcia C, Coffey C, Chan P, Duda JE, Facheris MF, Fernández-Santiago R, Ruíz-Martínez J, Mestre T, Saunders-Pullman R, Pont-Sunyer C, Tolosa E, Waro B; LRRK2 Cohort Consortium. Marras C, et al. Mov Disord. 2016 Aug;31(8):1192-202. doi: 10.1002/mds.26614. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27091104
48 results