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Page 1
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL; American Genome Center; Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-… See abstract for full author list ➔ Bandres-Ciga S, et al. Mov Disord. 2019 Dec;34(12):1851-1863. doi: 10.1002/mds.27864. Epub 2019 Oct 29. Mov Disord. 2019. PMID: 31660654 Free PMC article.
Lack of interaction of SNCA and MAPT genotypes in Parkinson's disease.
Botta-Orfila T, Ezquerra M, Ríos J, Fernández-Santiago R, Cervantes S, Samaranch L, Pastor P, Martí MJ, Muñoz E, Valldeoriola F, Aguilar M, Calopa M, Hernández-Vara J, Tolosa E. Botta-Orfila T, et al. Eur J Neurol. 2011 Mar;18(3):e32. doi: 10.1111/j.1468-1331.2010.03245.x. Epub 2010 Nov 4. Eur J Neurol. 2011. PMID: 21054681 No abstract available.
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
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans.
Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Alonso E, Coria F, Pastor MA, Fernández-Santiago R, Martí MJ, Ezquerra M, Valldeoriola F, Compta Y, Tolosa E, Agundez JA, Jiménez-Jiménez FJ, Gironell A, Clarimon J, de Castro P, García-Martín E, Alonso-Navarro H, Pastor P. Ortega-Cubero S, et al. Neurobiol Aging. 2013 Oct;34(10):2441.e9-2441.e11. doi: 10.1016/j.neurobiolaging.2013.04.024. Epub 2013 May 31. Neurobiol Aging. 2013. PMID: 23731953
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.
Reply: To PMID 25631192.
Tell-Martí G, Puig-Butille JA, Potrony M, Badenas C, Milà M, Malvehy J, Martí MJ, Ezquerra M, Fernández-Santiago R, Puig S. Tell-Martí G, et al. Ann Neurol. 2015 Jul;78(1):153-4. doi: 10.1002/ana.24418. Epub 2015 May 25. Ann Neurol. 2015. PMID: 25913870 No abstract available.
90 results