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Page 1
Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.
Cavanillas ML, Fernández O, Comabella M, Alcina A, Fedetz M, Izquierdo G, Lucas M, Cénit MC, Arroyo R, Vandenbroeck K, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Gómez CL, Olascoaga J, Otaegui D, Blanco Y, Saiz A, Montalbán X, Matesanz F, Urcelay E. Cavanillas ML, et al. Genes Immun. 2011 Mar;12(2):110-5. doi: 10.1038/gene.2010.52. Epub 2010 Oct 14. Genes Immun. 2011. PMID: 20944657
Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.
Varadé J, Comabella M, Ortiz MA, Arroyo R, Fernández O, Pinto-Medel MJ, Fedetz M, Izquierdo G, Lucas M, Gómez CL, Rabasa AC, Alcina A, Matesanz F, Alloza I, Antigüedad A, García-Barcina M, Otaegui D, Olascoaga J, Saiz A, Blanco Y, Montalbán X, Vandenbroeck K, Urcelay E. Varadé J, et al. Mult Scler. 2012 Jul;18(7):959-65. doi: 10.1177/1352458511432741. Epub 2011 Dec 22. Mult Scler. 2012. PMID: 22194214
The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.
Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, Fernandez O, Cavanillas ML, Cénit MC, Arroyo R, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Izquierdo G, Lucas M, Fedetz M, Pinto-Medel MJ, Olascoaga J, Blanco Y, Comabella M, Montalban X, Urcelay E, Matesanz F. Alcina A, et al. Genes Immun. 2010 Jul;11(5):439-45. doi: 10.1038/gene.2010.30. Epub 2010 May 27. Genes Immun. 2010. PMID: 20508602
Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.
Alcina A, Fedetz M, Fernández O, Saiz A, Izquierdo G, Lucas M, Leyva L, García-León JA, Abad-Grau Mdel M, Alloza I, Antigüedad A, Garcia-Barcina MJ, Vandenbroeck K, Varadé J, de la Hera B, Arroyo R, Comabella M, Montalban X, Petit-Marty N, Navarro A, Otaegui D, Olascoaga J, Blanco Y, Urcelay E, Matesanz F. Alcina A, et al. J Med Genet. 2013 Jan;50(1):25-33. doi: 10.1136/jmedgenet-2012-101085. Epub 2012 Nov 17. J Med Genet. 2013. PMID: 23160276 Free PMC article.
Fine mapping and functional analysis of the multiple sclerosis risk gene CD6.
Swaminathan B, Cuapio A, Alloza I, Matesanz F, Alcina A, García-Barcina M, Fedetz M, Fernández O, Lucas M, Orpez T, Pinto-Medel MJ, Otaegui D, Olascoaga J, Urcelay E, Ortiz MA, Arroyo R, Oksenberg JR, Antigüedad A, Tolosa E, Vandenbroeck K. Swaminathan B, et al. PLoS One. 2013 Apr 24;8(4):e62376. doi: 10.1371/journal.pone.0062376. Print 2013. PLoS One. 2013. PMID: 23638056 Free PMC article.
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. García-Redondo A, et al. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C. Vieitez I, et al. Neurologia. 2017 Jul-Aug;32(6):377-385. doi: 10.1016/j.nrl.2015.12.009. Epub 2016 Mar 9. Neurologia. 2017. PMID: 26968818 Free article. English, Spanish.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group. Sánchez-Ferrero E, et al. Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21. Clin Genet. 2013. PMID: 22571692
38 results