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Page 1
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. 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. 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
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. 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. Arch Neurol. 2011 Mar;68(3):359-64. doi: 10.1001/archneurol.2011.17. Arch Neurol. 2011. PMID: 21403021
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Borrego-Écija S, Cortés-Vicente E, Cervera-Carles L, Clarimón J, Gámez J, Batlle J, Ricken G, Molina-Porcel L, Aldecoa I, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426. doi: 10.1111/nan.12527. Epub 2018 Nov 20. Neuropathol Appl Neurobiol. 2019. PMID: 30375034 Free PMC article. Review. No abstract available.
Diverse, evolving conformer populations drive distinct phenotypes in frontotemporal lobar degeneration caused by the same MAPT-P301L mutation.
Daude N, Kim C, Kang SG, Eskandari-Sedighi G, Haldiman T, Yang J, Fleck SC, Gomez-Cardona E, Han ZZ, Borrego-Ecija S, Wohlgemuth S, Julien O, Wille H, Molina-Porcel L, Gelpi E, Safar JG, Westaway D. Daude N, et al. Acta Neuropathol. 2020 Jun;139(6):1045-1070. doi: 10.1007/s00401-020-02148-4. Epub 2020 Mar 26. Acta Neuropathol. 2020. PMID: 32219515 Free PMC article.
85 results