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Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Alías L, Bernal S, Barceló MJ, Martínez-Hernández R, Martínez E, Baiget M, Tizzano EF. Alías L, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec;15(7-8):563-8. doi: 10.3109/21678421.2014.929148. Epub 2014 Jul 7. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24998634
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
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
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Bernal S, et al. Neuromuscul Disord. 2011 Jun;21(6):413-9. doi: 10.1016/j.nmd.2011.03.009. Epub 2011 May 4. Neuromuscul Disord. 2011. PMID: 21546251
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
Alías L, Bernal S, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Hernández-Chico C, Baiget M, Tizzano EF. Alías L, et al. Genet Test Mol Biomarkers. 2011 Sep;15(9):587-94. doi: 10.1089/gtmb.2010.0253. Epub 2011 May 6. Genet Test Mol Biomarkers. 2011. PMID: 21548796
Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.
Parra J, Alias L, Also-Rallo E, Martínez-Hernández R, Senosiain R, Medina C, Alejos O, Rams N, Amenedo M, Ormo F, Jesús Barceló M, Calaf J, Baiget M, Bernal S, Tizzano EF. Parra J, et al. J Matern Fetal Neonatal Med. 2012 Aug;25(8):1246-9. doi: 10.3109/14767058.2011.636101. Epub 2011 Nov 30. J Matern Fetal Neonatal Med. 2012. PMID: 22082206 Free article.
46 results