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A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain).
Palencia-Madrid L, Sánchez-Valle R, Fernández de Retana I, Borrego S, Grau-Rivera O, Reñé R, Hernández I, Almenar C, Rossi G, Caroppo P, Redaelli V, Le Ber I, Camuzat A, Brice A, Antonell A, Balasa M, Gelpi E, Lladó A, de Pancorbo MM. Palencia-Madrid L, et al. Neurobiol Aging. 2019 Dec;84:236.e9-236.e15. doi: 10.1016/j.neurobiolaging.2019.08.015. Epub 2019 Aug 21. Neurobiol Aging. 2019. PMID: 31537395
Large APP locus duplication in a sporadic case of cerebral haemorrhage.
Lladó A, Grau-Rivera O, Sánchez-Valle R, Balasa M, Obach V, Amaro S, Rey MJ, Molinuevo JL, Gelpi E, Antonell A. Lladó A, et al. Neurogenetics. 2014 May;15(2):145-9. doi: 10.1007/s10048-014-0395-z. Epub 2014 Apr 2. Neurogenetics. 2014. PMID: 24691562
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease.
Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K. Verheijen J, et al. Acta Neuropathol. 2016 Aug;132(2):213-224. doi: 10.1007/s00401-016-1566-9. Epub 2016 Mar 30. Acta Neuropathol. 2016. PMID: 27026413 Free PMC article.
99 results