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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Hum Genet. 2009 Feb;125(1):29-39. doi: 10.1007/s00439-008-0598-1. Epub 2008 Dec 3. Hum Genet. 2009. PMID: 19050931
Contribution of globular death domains and unstructured linkers to MyD88.IRAK-4 heterodimer formation: an explanation for the antagonistic activity of MyD88s.
Mendoza-Barberá E, Corral-Rodríguez MA, Soares-Schanoski A, Velarde M, Macieira S, Messerschmidt A, López-Collazo E, Fuentes-Prior P. Mendoza-Barberá E, et al. Biochem Biophys Res Commun. 2009 Feb 27;380(1):183-7. doi: 10.1016/j.bbrc.2009.01.069. Epub 2009 Jan 22. Biochem Biophys Res Commun. 2009. PMID: 19167362
Tick-derived Kunitz-type inhibitors as antihemostatic factors.
Corral-Rodríguez MA, Macedo-Ribeiro S, Barbosa Pereira PJ, Fuentes-Prior P. Corral-Rodríguez MA, et al. Insect Biochem Mol Biol. 2009 Sep;39(9):579-95. doi: 10.1016/j.ibmb.2009.07.003. Epub 2009 Jul 24. Insect Biochem Mol Biol. 2009. PMID: 19631744 Review.
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Bernal S, Alías L, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Gámez J, Guillén-Navarro E, Rosell J, Hernando I, Rodríguez-Alvarez FJ, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Fuentes-Prior P, Tizzano EF. Bernal S, et al. J Med Genet. 2010 Sep;47(9):640-2. doi: 10.1136/jmg.2010.079004. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577007
74 results