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LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Among authors: blazquez l. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease.
Blázquez L, Otaegui D, Sáenz A, Paisán-Ruiz C, Emparanza JI, Ruiz-Martinez J, Moreno F, Martí-Massó JF, López de Munain A. Blázquez L, et al. Neurosci Lett. 2006 Oct 9;406(3):235-9. doi: 10.1016/j.neulet.2006.07.037. Epub 2006 Aug 14. Neurosci Lett. 2006. PMID: 16904828
Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population.
Blázquez L, De Juan D, Ruiz-Martínez J, Emparanza JI, Sáenz A, Otaegui D, Sistiaga A, Martínez-Lage P, Lamet I, Samaranch L, Buiza C, Etxeberria I, Arriola E, Cuadrado E, Urdaneta E, Yanguas J, López de Munain A. Blázquez L, et al. Neurobiol Aging. 2007 Dec;28(12):1941-3. doi: 10.1016/j.neurobiolaging.2006.08.009. Epub 2006 Oct 2. Neurobiol Aging. 2007. PMID: 17011669
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.
Alzualde A, Moreno F, Martínez-Lage P, Ferrer I, Gorostidi A, Otaegui D, Blázquez L, Atares B, Cardoso S, Martínez de Pancorbo M, Juste R, Rodríguez-Martínez AB, Indakoetxea B, López de Munain A. Alzualde A, et al. Among authors: blazquez l. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1283-91. doi: 10.1002/ajmg.b.31099. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20872767
U1 interference (U1i) for antiviral approaches.
Blázquez L, Fortes P. Blázquez L, et al. Adv Exp Med Biol. 2015;848:51-69. doi: 10.1007/978-1-4939-2432-5_3. Adv Exp Med Biol. 2015. PMID: 25757615 Review.
55 results