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GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy.
Neurobiol Dis. 2018 Nov;119:88-99. doi: 10.1016/j.nbd.2018.07.031. Epub 2018 Aug 1.
Neurobiol Dis. 2018.
PMID: 30076890
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A.
Sirisi S, et al. Among authors: perez rius c.
Hum Mol Genet. 2014 Oct 1;23(19):5069-86. doi: 10.1093/hmg/ddu231. Epub 2014 May 12.
Hum Mol Genet. 2014.
PMID: 24824219
Free article.
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Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Estévez R, Elorza-Vidal X, Gaitán-Peñas H, Pérez-Rius C, Armand-Ugón M, Alonso-Gardón M, Xicoy-Espaulella E, Sirisi S, Arnedo T, Capdevila-Nortes X, López-Hernández T, Montolio M, Duarri A, Teijido O, Barrallo-Gimeno A, Palacín M, Nunes V.
Estévez R, et al. Among authors: perez rius c.
Eur J Med Genet. 2018 Jan;61(1):50-60. doi: 10.1016/j.ejmg.2017.10.013. Epub 2017 Oct 25.
Eur J Med Genet. 2018.
PMID: 29079544
Free article.
Review.
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Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
Pérez-Rius C, Folgueira M, Elorza-Vidal X, Alia A, Hoegg-Beiler MB, Eeza MNH, Díaz ML, Nunes V, Barrallo-Gimeno A, Estévez R.
Pérez-Rius C, et al.
Orphanet J Rare Dis. 2019 Nov 21;14(1):268. doi: 10.1186/s13023-019-1248-5.
Orphanet J Rare Dis. 2019.
PMID: 31752924
Free PMC article.
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Identification and characterization of the zebrafish ClC-2 chloride channel orthologs.
Pérez-Rius C, Gaitán-Peñas H, Estévez R, Barrallo-Gimeno A.
Pérez-Rius C, et al.
Pflugers Arch. 2015 Aug;467(8):1769-81. doi: 10.1007/s00424-014-1614-z. Epub 2014 Sep 20.
Pflugers Arch. 2015.
PMID: 25236920
Free article.
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Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.
Pérez-Rius C, Castellanos A, Gaitán-Peñas H, Navarro A, Artuch R, Barrallo-Gimeno A, Estévez R.
Pérez-Rius C, et al.
J Physiol. 2019 Aug;597(15):3969-3983. doi: 10.1113/JP278069. Epub 2019 Jul 3.
J Physiol. 2019.
PMID: 31177533
Free article.
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Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
Marcé-Grau A, Elorza-Vidal X, Pérez-Rius C, Ruiz-Nel Lo A, Sala-Coromina J, Gabau E, Estévez R, Macaya A.
Marcé-Grau A, et al. Among authors: perez rius c.
Hum Mutat. 2021 Oct;42(10):1215-1220. doi: 10.1002/humu.24252. Epub 2021 Jul 10.
Hum Mutat. 2021.
PMID: 34212451
Free article.
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