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LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Lorenzo-Betancor O, Samaranch L, Ezquerra M, Tolosa E, Lorenzo E, Irigoyen J, Gaig C, Pastor MA, Soto-Ortolaza AI, Ross OA, Rodríguez-Oroz MC, Valldeoriola F, Martí MJ, Luquin MR, Perez-Tur J, Burguera JA, Obeso JA, Pastor P. Lorenzo-Betancor O, et al. Mov Disord. 2012 Jan;27(1):146-51. doi: 10.1002/mds.23968. Epub 2011 Oct 28. Mov Disord. 2012. PMID: 22038903
LINGO1 gene analysis in Parkinson's disease phenotypes.
Lorenzo-Betancor O, Samaranch L, García-Martín E, Cervantes S, Agúndez JA, Jiménez-Jiménez FJ, Alonso-Navarro H, Luengo A, Coria F, Lorenzo E, Irigoyen J, Pastor P; Iberian Parkinson's Disease Genetics Study Group Researchers. Lorenzo-Betancor O, et al. Mov Disord. 2011 Mar;26(4):722-7. doi: 10.1002/mds.23452. Epub 2011 Jan 4. Mov Disord. 2011. PMID: 21506150
Automated neuromelanin imaging as a diagnostic biomarker for Parkinson's disease.
Castellanos G, Fernández-Seara MA, Lorenzo-Betancor O, Ortega-Cubero S, Puigvert M, Uranga J, Vidorreta M, Irigoyen J, Lorenzo E, Muñoz-Barrutia A, Ortiz-de-Solorzano C, Pastor P, Pastor MA. Castellanos G, et al. Mov Disord. 2015 Jun;30(7):945-52. doi: 10.1002/mds.26201. Epub 2015 Mar 15. Mov Disord. 2015. PMID: 25772492
PINK1-linked parkinsonism is associated with Lewy body pathology.
Samaranch L, Lorenzo-Betancor O, Arbelo JM, Ferrer I, Lorenzo E, Irigoyen J, Pastor MA, Marrero C, Isla C, Herrera-Henriquez J, Pastor P. Samaranch L, et al. Brain. 2010 Apr;133(Pt 4):1128-42. doi: 10.1093/brain/awq051. Epub 2010 Mar 30. Brain. 2010. PMID: 20356854
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
Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.
Razquin C, Ortega-Cubero S, Rojo-Bustamante E, Diez-Fairen M, Lorenzo E, Alonso E, Ezquerra M, Ross OA, Carcel M, Lorenzo-Betancor O, Soto AI, Burgess JD, Ertekin-Taner N, Dickson DW, Pastor MA, Tolosa E, Pastor P. Razquin C, et al. Neurobiol Aging. 2018 Jun;66:177.e7-177.e10. doi: 10.1016/j.neurobiolaging.2017.12.026. Epub 2018 Jan 11. Neurobiol Aging. 2018. PMID: 29398119 Free PMC article.
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
Common variation in the LRRK2 gene is a risk factor for Parkinson's disease.
Mata IF, Checkoway H, Hutter CM, Samii A, Roberts JW, Kim HM, Agarwal P, Alvarez V, Ribacoba R, Pastor P, Lorenzo-Betancor O, Infante J, Sierra M, Gómez-Garre P, Mir P, Ritz B, Rhodes SL, Colcher A, Van Deerlin V, Chung KA, Quinn JF, Yearout D, Martinez E, Farin FM, Wan JY, Edwards KL, Zabetian CP. Mata IF, et al. Mov Disord. 2012 Dec;27(14):1822-5. doi: 10.1002/mds.25226. Epub 2012 Oct 31. Mov Disord. 2012. PMID: 23115130 Free PMC article.
58 results