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Page 1
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A, Van den Bossche T, van der Zee J, Verheijen J, De Coster W, Van Dongen J, Dillen L, Baradaran-Heravi Y, Heeman B, Sanchez-Valle R, Lladó A, Nacmias B, Sorbi S, Gelpi E, Grau-Rivera O, Gómez-Tortosa E, Pastor P, Ortega-Cubero S, Pastor MA, Graff C, Thonberg H, Benussi L, Ghidoni R, Binetti G, de Mendonça A, Martins M, Borroni B, Padovani A, Almeida MR, Santana I, Diehl-Schmid J, Alexopoulos P, Clarimon J, Lleó A, Fortea J, Tsolaki M, Koutroumani M, Matěj R, Rohan Z, De Deyn P, Engelborghs S, Cras P, Van Broeckhoven C, Sleegers K; European Early-Onset Dementia (EU EOD) consortium. De Roeck A, et al. Among authors: pastor p, pastor ma. Acta Neuropathol. 2017 Sep;134(3):475-487. doi: 10.1007/s00401-017-1714-x. Epub 2017 Apr 27. Acta Neuropathol. 2017. PMID: 28447221 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: pastor p, pastor ma. Neurology. 2008 Jul 29;71(5):332-6. doi: 10.1212/01.wnl.0000319646.23052.d1. Neurology. 2008. PMID: 18663179
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
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: pastor p, pastor ma. Brain. 2010 Apr;133(Pt 4):1128-42. doi: 10.1093/brain/awq051. Epub 2010 Mar 30. Brain. 2010. PMID: 20356854
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.
130 results