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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: marti r. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.
Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.
Fernández-Ruiz I, Arnalich F, Cubillos-Zapata C, Hernández-Jiménez E, Moreno-González R, Toledano V, Fernández-Velasco M, Vallejo-Cremades MT, Esteban-Burgos L, de Diego RP, Llamas-Matias MA, García-Arumi E, Martí R, Boscá L, Andreu AL, López-Sendón JL, López-Collazo E. Fernández-Ruiz I, et al. Among authors: marti r. PLoS One. 2014 May 5;9(5):e95073. doi: 10.1371/journal.pone.0095073. eCollection 2014. PLoS One. 2014. PMID: 24797663 Free PMC article. Clinical Trial.
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.
Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Cámara Y, et al. Among authors: marti r. Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6. Neurology. 2015. PMID: 25948719 No abstract available.
677 results