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Page 1
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. Among authors: garcia barcina mj. 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
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia. Alvarez V, et al. Among authors: garcia barcina mj. BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. BMC Neurol. 2010. PMID: 20932283 Free PMC article.
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Oct;34(10):1547-1561. doi: 10.1002/mds.27812. Epub 2019 Aug 21. Mov Disord. 2019. PMID: 31433872
Reply to: "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion".
De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A. De la Casa-Fages B, et al. Mov Disord. 2019 Dec;34(12):1932-1933. doi: 10.1002/mds.27899. Mov Disord. 2019. PMID: 31845766 No abstract available.
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.
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
Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
Franco ML, Melero C, Sarasola E, Acebo P, Luque A, Calatayud-Baselga I, García-Barcina M, Vilar M. Franco ML, et al. J Biol Chem. 2016 Oct 7;291(41):21363-21374. doi: 10.1074/jbc.M116.722587. Epub 2016 Aug 22. J Biol Chem. 2016. PMID: 27551041 Free PMC article.
33 results