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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
The LRRK2 G2019S mutant exacerbates basal autophagy through activation of the MEK/ERK pathway.
Bravo-San Pedro JM, Niso-Santano M, Gómez-Sánchez R, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sanchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA. Bravo-San Pedro JM, et al. Among authors: lopez de munain a, lopez de maturana r. Cell Mol Life Sci. 2013 Jan;70(1):121-36. doi: 10.1007/s00018-012-1061-y. Epub 2012 Jul 8. Cell Mol Life Sci. 2013. PMID: 22773119 Free PMC article.
The MAPK1/3 pathway is essential for the deregulation of autophagy observed in G2019S LRRK2 mutant fibroblasts.
Bravo-San Pedro JM, Gómez-Sánchez R, Niso-Santano M, Pizarro-Estrella E, Aiastui-Pujana A, Gorostidi A, Climent V, López de Maturana R, Sanchez-Pernaute R, López de Munain A, Fuentes JM, González-Polo RA. Bravo-San Pedro JM, et al. Among authors: lopez de munain a, lopez de maturana r. Autophagy. 2012 Oct;8(10):1537-9. doi: 10.4161/auto.21270. Epub 2012 Aug 23. Autophagy. 2012. PMID: 22914360 Free PMC article.
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.
Fernandez-Costa JM, Garcia-Lopez A, Zuñiga S, Fernandez-Pedrosa V, Felipo-Benavent A, Mata M, Jaka O, Aiastui A, Hernandez-Torres F, Aguado B, Perez-Alonso M, Vilchez JJ, Lopez de Munain A, Artero RD. Fernandez-Costa JM, et al. Among authors: lopez de munain a. Hum Mol Genet. 2013 Feb 15;22(4):704-16. doi: 10.1093/hmg/dds478. Epub 2012 Nov 8. Hum Mol Genet. 2013. PMID: 23139243
Αlpha-synuclein levels in blood plasma from LRRK2 mutation carriers.
Gorostidi A, Bergareche A, Ruiz-Martínez J, Martí-Massó JF, Cruz M, Varghese S, Qureshi MM, Alzahmi F, Al-Hayani A, López de Munáin A, El-Agnaf OM. Gorostidi A, et al. Among authors: lopez de munain a. PLoS One. 2012;7(12):e52312. doi: 10.1371/journal.pone.0052312. Epub 2012 Dec 27. PLoS One. 2012. PMID: 23300640 Free PMC article.
Murine muscle engineered from dermal precursors: an in vitro model for skeletal muscle generation, degeneration, and fatty infiltration.
García-Parra P, Naldaiz-Gastesi N, Maroto M, Padín JF, Goicoechea M, Aiastui A, Fernández-Morales JC, García-Belda P, Lacalle J, Álava JI, García-Verdugo JM, García AG, Izeta A, López de Munain A. García-Parra P, et al. Among authors: lopez de munain a. Tissue Eng Part C Methods. 2014 Jan;20(1):28-41. doi: 10.1089/ten.TEC.2013.0146. Epub 2013 Jun 22. Tissue Eng Part C Methods. 2014. PMID: 23631552 Free PMC article.
Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.
Ruiz-Martínez J, de la Riva P, Rodríguez-Oroz MC, Mondragón Rezola E, Bergareche A, Gorostidi A, Gago B, Estanga A, Larrañaga N, Sarasqueta C, López de Munain A, Martí Massó JF. Ruiz-Martínez J, et al. Among authors: de la riva p, lopez de munain a. Mov Disord. 2014 May;29(6):750-5. doi: 10.1002/mds.25778. Epub 2013 Dec 19. Mov Disord. 2014. PMID: 24357540
358 results