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Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S. Garone C, et al. JAMA Neurol. 2013 Sep 1;70(9):1177-9. doi: 10.1001/jamaneurol.2013.3197. JAMA Neurol. 2013. PMID: 23836383 Free PMC article.
Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M. Emmanuele V, et al. Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30. Hum Mol Genet. 2015. PMID: 25274776 Free PMC article.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Garcia-Diaz B, et al. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022099 Free PMC article.
Loss of lysophosphatidic acid receptor LPA1 alters oligodendrocyte differentiation and myelination in the mouse cerebral cortex.
García-Díaz B, Riquelme R, Varela-Nieto I, Jiménez AJ, de Diego I, Gómez-Conde AI, Matas-Rico E, Aguirre JÁ, Chun J, Pedraza C, Santín LJ, Fernández O, Rodríguez de Fonseca F, Estivill-Torrús G. García-Díaz B, et al. Brain Struct Funct. 2015 Nov;220(6):3701-20. doi: 10.1007/s00429-014-0885-7. Epub 2014 Sep 17. Brain Struct Funct. 2015. PMID: 25226845
Deletion of lysophosphatidic acid receptor LPA1 reduces neurogenesis in the mouse dentate gyrus.
Matas-Rico E, García-Diaz B, Llebrez-Zayas P, López-Barroso D, Santín L, Pedraza C, Smith-Fernández A, Fernández-Llebrez P, Tellez T, Redondo M, Chun J, De Fonseca FR, Estivill-Torrús G. Matas-Rico E, et al. Mol Cell Neurosci. 2008 Nov;39(3):342-55. doi: 10.1016/j.mcn.2008.07.014. Epub 2008 Jul 29. Mol Cell Neurosci. 2008. PMID: 18708146 Free PMC article.
Activation of Macrophages by Lysophosphatidic Acid through the Lysophosphatidic Acid Receptor 1 as a Novel Mechanism in Multiple Sclerosis Pathogenesis.
Fransson J, Gómez-Conde AI, Romero-Imbroda J, Fernández O, Leyva L, de Fonseca FR, Chun J, Louapre C, Van-Evercooren AB, Zujovic V, Estivill-Torrús G, García-Díaz B. Fransson J, et al. Mol Neurobiol. 2021 Feb;58(2):470-482. doi: 10.1007/s12035-020-02130-x. Epub 2020 Sep 24. Mol Neurobiol. 2021. PMID: 32974731 Free article.
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