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363 results

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Page 1
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P. Genis D, et al. Among authors: lorenzo e. Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31. Neurology. 2018. PMID: 30381368
Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population.
Diez-Fairen M, Benitez BA, Ortega-Cubero S, Lorenzo-Betancor O, Cruchaga C, Lorenzo E, Samaranch L, Carcel M, Obeso JA, Rodriguez-Oroz MC, Aguilar M, Coria F, Pastor MA, Pastor P. Diez-Fairen M, et al. Among authors: lorenzo e, lorenzo betancor o. Neurobiol Aging. 2018 Oct;70:325.e1-325.e5. doi: 10.1016/j.neurobiolaging.2018.05.008. Epub 2018 May 14. Neurobiol Aging. 2018. PMID: 29887346
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. Among authors: lorenzo e, lorenzo betancor o. Brain. 2010 Apr;133(Pt 4):1128-42. doi: 10.1093/brain/awq051. Epub 2010 Mar 30. Brain. 2010. PMID: 20356854
Frontobasal gray matter loss is associated with the TREM2 p.R47H variant.
Luis EO, Ortega-Cubero S, Lamet I, Razquin C, Cruchaga C, Benitez BA, Lorenzo E, Irigoyen J; Alzheimer's Disease Neuroimaging Initiative (ADNI); Pastor MA, Pastor P. Luis EO, et al. Among authors: lorenzo e. Neurobiol Aging. 2014 Dec;35(12):2681-2690. doi: 10.1016/j.neurobiolaging.2014.06.007. Epub 2014 Jun 17. Neurobiol Aging. 2014. PMID: 25027412 Free PMC article.
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. Among authors: lorenzo e, lorenzo betancor o. 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.
SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
Samaranch L, Riverol M, Masdeu JC, Lorenzo E, Vidal-Taboada JM, Irigoyen J, Pastor MA, de Castro P, Pastor P. Samaranch L, et al. Among authors: lorenzo e. Neurology. 2008 Jul 29;71(5):332-6. doi: 10.1212/01.wnl.0000319646.23052.d1. Neurology. 2008. PMID: 18663179
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. Among authors: lorenzo e, lorenzo betancor o. Mov Disord. 2015 Jun;30(7):945-52. doi: 10.1002/mds.26201. Epub 2015 Mar 15. Mov Disord. 2015. PMID: 25772492
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. Among authors: lorenzo e, lorenzo betancor o. 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
363 results