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The prodromal phase of leucine-rich repeat kinase 2-associated Parkinson disease: Clinical and imaging Studies.
Pont-Sunyer C, Tolosa E, Caspell-Garcia C, Coffey C, Alcalay RN, Chan P, Duda JE, Facheris M, Fernández-Santiago R, Marek K, Lomeña F, Marras C, Mondragon E, Saunders-Pullman R, Waro B; LRRK2 Cohort Consortium. Pont-Sunyer C, et al. Mov Disord. 2017 May;32(5):726-738. doi: 10.1002/mds.26964. Epub 2017 Mar 28. Mov Disord. 2017. PMID: 28370517
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.
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.
Aberrant epigenome in iPSC-derived dopaminergic neurons from Parkinson's disease patients.
Fernández-Santiago R, Carballo-Carbajal I, Castellano G, Torrent R, Richaud Y, Sánchez-Danés A, Vilarrasa-Blasi R, Sánchez-Pla A, Mosquera JL, Soriano J, López-Barneo J, Canals JM, Alberch J, Raya Á, Vila M, Consiglio A, Martín-Subero JI, Ezquerra M, Tolosa E. Fernández-Santiago R, et al. EMBO Mol Med. 2015 Dec;7(12):1529-46. doi: 10.15252/emmm.201505439. EMBO Mol Med. 2015. PMID: 26516212 Free PMC article.
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
MAPT association with REM sleep behavior disorder.
Fernández-Santiago R, Iranzo A, Gaig C, Serradell M, Fernández M, Pastor P, Tolosa E, Santamaría J, Ezquerra M. Fernández-Santiago R, et al. Neurol Genet. 2017 Jan 13;3(1):e131. doi: 10.1212/NXG.0000000000000131. eCollection 2017 Feb. Neurol Genet. 2017. PMID: 28105467 Free PMC article. No abstract available.
90 results