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Page 1
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB); Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kaw… See abstract for full author list ➔ van der Lee SJ, et al. Among authors: lleo a. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
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: lleo a. 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.
A megalin polymorphism associated with promoter activity and Alzheimer's disease risk.
Vargas T, Bullido MJ, Martinez-Garcia A, Antequera D, Clarimon J, Rosich-Estrago M, Martin-Requero A, Mateo I, Rodriguez-Rodriguez E, Vilella-Cuadrada E, Frank A, Lleo A, Molina-Porcel L, Blesa R, Combarros O, Gomez-Isla T, Bermejo-Pareja F, Valdivieso F, Carro E. Vargas T, et al. Among authors: lleo a. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):895-902. doi: 10.1002/ajmg.b.31056. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20052685
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: lleo a. J Alzheimers Dis. 2010;22(4):1065-71. doi: 10.3233/JAD-2010-101011. J Alzheimers Dis. 2010. PMID: 20930301
IGF-I gene variability is associated with an increased risk for AD.
Vargas T, Martinez-Garcia A, Antequera D, Vilella E, Clarimon J, Mateo I, Sanchez-Juan P, Rodriguez-Rodriguez E, Frank A, Rosich-Estrago M, Lleo A, Molina-Porcel L, Blesa R, Gomez-Isla T, Combarros O, Bermejo-Pareja F, Valdivieso F, Bullido MJ, Carro E. Vargas T, et al. Among authors: lleo a. Neurobiol Aging. 2011 Mar;32(3):556.e3-11. doi: 10.1016/j.neurobiolaging.2010.10.017. Epub 2010 Dec 22. Neurobiol Aging. 2011. PMID: 21176999
Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes.
Setó-Salvia N, Clarimón J, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Combarros O, Mateo JI, Regaña D, Martínez-Corral M, Marquié M, Alcolea D, Suárez-Calvet M, Molina-Porcel L, Dols O, Gómez-Isla T, Blesa R, Lleó A, Kulisevsky J. Setó-Salvia N, et al. Among authors: lleo a. Arch Neurol. 2011 Mar;68(3):359-64. doi: 10.1001/archneurol.2011.17. Arch Neurol. 2011. PMID: 21403021
590 results