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Page 1
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Cuyvers E, van der Zee J, Bettens K, Engelborghs S, Vandenbulcke M, Robberecht C, Dillen L, Merlin C, Geerts N, Graff C, Thonberg H, Chiang HH, Pastor P, Ortega-Cubero S, Pastor MA, Diehl-Schmid J, Alexopoulos P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Sanchez-Valle R, Lladó A, Gelpi E, Almeida MR, Santana I, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Borroni B, Padovani A, Matěj R, Rohan Z, Ruiz A, Frisoni GB, Fabrizi GM, Vandenberghe R, De Deyn PP, Van Broeckhoven C, Sleegers K; BELNEU Consortium and of the EU EOD Consortium. Cuyvers E, et al. Among authors: pastor p, pastor ma. Neurobiol Aging. 2015 May;36(5):2005.e15-22. doi: 10.1016/j.neurobiolaging.2015.02.014. Epub 2015 Feb 19. Neurobiol Aging. 2015. PMID: 25796131 Free article.
Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.
Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor MA, de Castro P, Masdeu JC. Riverol M, et al. Among authors: pastor p, pastor ma. J Neuroimaging. 2009 Jan;19(1):52-60. doi: 10.1111/j.1552-6569.2008.00327.x. Epub 2008 Nov 21. J Neuroimaging. 2009. PMID: 19040626
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: pastor p, pastor ma. 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
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: pastor p, pastor ma. 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.
Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes.
Thelen M, Razquin C, Hernández I, Gorostidi A, Sánchez-Valle R, Ortega-Cubero S, Wolfsgruber S, Drichel D, Fliessbach K, Duenkel T, Damian M, Heilmann S, Slotosch A, Lennarz M, Seijo-Martínez M, Rene R, Kornhuber J, Peters O, Luckhaus C, Jahn H, Hüll M, Rüther E, Wiltfang J, Lorenzo E, Gascon J, Lleó A, Lladó A, Campdelacreu J, Moreno F, Ahmadzadehfar H; Dementia Genetics Spanish Consortium (DEGESCO); Fortea J, Indakoetxea B, Heneka MT, Wetter A, Pastor MA, Riverol M, Becker T, Frölich L, Tárraga L, Boada M, Wagner M, Jessen F, Maier W, Clarimón J, López de Munain A, Ruiz A, Pastor P, Ramirez A. Thelen M, et al. Among authors: pastor p, pastor ma. Neurobiol Aging. 2014 Nov;35(11):2657.e13-2657.e19. doi: 10.1016/j.neurobiolaging.2014.06.018. Epub 2014 Jun 20. Neurobiol Aging. 2014. PMID: 25042114
TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ, Ross OA, Wurster I, Mielke C, Lin JJ, Coria F, Clarimon J, Ezquerra M, Brighina L, Annesi G, Alonso-Navarro H, García-Martin E, Gironell A, Marti MJ, Yueh KC, Wszolek ZK, Sharma M, Berg D, Krüger R, Pastor MA, Pastor P. Ortega-Cubero S, et al. Among authors: pastor p, pastor ma. Parkinsonism Relat Disord. 2015 Mar;21(3):306-9. doi: 10.1016/j.parkreldis.2014.12.010. Epub 2014 Dec 24. Parkinsonism Relat Disord. 2015. PMID: 25585992 Free PMC article.
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: pastor p, pastor ma. Mov Disord. 2015 Jun;30(7):945-52. doi: 10.1002/mds.26201. Epub 2015 Mar 15. Mov Disord. 2015. PMID: 25772492
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Cacace R, Van den Bossche T, Engelborghs S, Geerts N, Laureys A, Dillen L, Graff C, Thonberg H, Chiang HH, Pastor P, Ortega-Cubero S, Pastor MA, Diehl-Schmid J, Alexopoulos P, Benussi L, Ghidoni R, Binetti G, Nacmias B, Sorbi S, Sanchez-Valle R, Lladó A, Gelpi E, Almeida MR, Santana I, Tsolaki M, Koutroumani M, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Borroni B, Padovani A, Matej R, Rohan Z, Vandenbulcke M, Vandenberghe R, De Deyn PP, Cras P, van der Zee J, Sleegers K, Van Broeckhoven C; Belgium Neurology (BELNEU) Consortium and the European Early-Onset Dementia (EU EOD) Consortium. Cacace R, et al. Among authors: pastor p, pastor ma. Hum Mutat. 2015 Dec;36(12):1226-35. doi: 10.1002/humu.22908. Epub 2015 Oct 14. Hum Mutat. 2015. PMID: 26411346 Free PMC article.
129 results