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Page 1
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. Among authors: lopez de munain a, de arcaya aa, de rivera fj. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364
A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease.
Goertsches R, Villoslada P, Comabella M, Montalban X, Navarro A, de la Concha EG, Arroyo R, Lopez de Munain A, Otaegui D, Palacios R, Perez-Tur J, Jonasdottir A, Benediktsson K, Fossdal R, Sawcer S, Setakis E, Compston A; Spanish MS Genetics Group. Goertsches R, et al. Among authors: lopez de munain a, de la concha eg. J Neuroimmunol. 2003 Oct;143(1-2):124-8. doi: 10.1016/j.jneuroim.2003.08.026. J Neuroimmunol. 2003. PMID: 14575929
Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.
López de Munain A, Alzualde A, Gorostidi A, Otaegui D, Ruiz-Martínez J, Indakoetxea B, Ferrer I, Pérez-Tur J, Sáenz A, Bergareche A, Barandiarán M, Poza JJ, Zabalza R, Ruiz I, Urtasun M, Fernández-Manchola I, Olasagasti B, Espinal JB, Olaskoaga J, Ruibal M, Moreno F, Carrera N, Martí Massó JF. López de Munain A, et al. Biol Psychiatry. 2008 May 15;63(10):946-52. doi: 10.1016/j.biopsych.2007.08.015. Epub 2007 Oct 22. Biol Psychiatry. 2008. PMID: 17950702
Neuropathology of Parkinson's disease with the R1441G mutation in LRRK2.
Martí-Massó JF, Ruiz-Martínez J, Bolaño MJ, Ruiz I, Gorostidi A, Moreno F, Ferrer I, López de Munain A. Martí-Massó JF, et al. Among authors: lopez de munain a. Mov Disord. 2009 Oct 15;24(13):1998-2001. doi: 10.1002/mds.22677. Mov Disord. 2009. PMID: 19735093
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, López de Munain A, Poza JJ, Striano P, Buxbaum JD, Paisán-Ruiz C. Martí-Massó JF, et al. Among authors: lopez de munain a. J Mol Med (Berl). 2013 Dec;91(12):1399-406. doi: 10.1007/s00109-013-1075-4. Epub 2013 Aug 20. J Mol Med (Berl). 2013. PMID: 23955123 Free PMC article.
355 results