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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.
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
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Guerreiro RJ, et al. Among authors: pastor p. Neurobiol Aging. 2010 May;31(5):725-31. doi: 10.1016/j.neurobiolaging.2008.06.012. Epub 2008 Jul 30. Neurobiol Aging. 2010. PMID: 18667258 Free PMC 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
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
The effect of MAPT H1 and APOE ε4 on transition from mild cognitive impairment to dementia.
Samaranch L, Cervantes S, Barabash A, Alonso A, Cabranes JA, Lamet I, Ancín I, Lorenzo E, Martínez-Lage P, Marcos A, Clarimón J, Alcolea D, Lleó A, Blesa R, Gómez-Isla T, Pastor P. Samaranch L, et al. Among authors: pastor p. J Alzheimers Dis. 2010;22(4):1065-71. doi: 10.3233/JAD-2010-101011. J Alzheimers Dis. 2010. PMID: 20930301
413 results