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2014 2
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Page 1
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: gaitan penas h. 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.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Duncan AR, Polovitskaya MM, Gaitán-Peñas H, Bertelli S, VanNoy GE, Grant PE, O'Donnell-Luria A, Valivullah Z, Lovgren AK, England EM, Agolini E, Madden JA, Schmitz-Abe K, Kritzer A, Hawley P, Novelli A, Alfieri P, Colafati GS, Wieczorek D, Platzer K, Luppe J, Koch-Hogrebe M, Abou Jamra R, Neira-Fresneda J, Lehman A, Boerkoel CF, Seath K, Clarke L; CAUSES Study; van Ierland Y, Argilli E, Sherr EH, Maiorana A, Diel T, Hempel M, Bierhals T, Estévez R, Jentsch TJ, Pusch M, Agrawal PB. Duncan AR, et al. Among authors: gaitan penas h. Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28. Am J Hum Genet. 2021. PMID: 34186028 Free PMC article.
GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy.
Elorza-Vidal X, Sirisi S, Gaitán-Peñas H, Pérez-Rius C, Alonso-Gardón M, Armand-Ugón M, Lanciotti A, Brignone MS, Prat E, Nunes V, Ambrosini E, Gasull X, Estévez R. Elorza-Vidal X, et al. Among authors: gaitan penas h. Neurobiol Dis. 2018 Nov;119:88-99. doi: 10.1016/j.nbd.2018.07.031. Epub 2018 Aug 1. Neurobiol Dis. 2018. PMID: 30076890
Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice.
Bao J, Perez CJ, Kim J, Zhang H, Murphy CJ, Hamidi T, Jaubert J, Platt CD, Chou J, Deng M, Zhou MH, Huang Y, Gaitán-Peñas H, Guénet JL, Lin K, Lu Y, Chen T, Bedford MT, Dent SY, Richburg JH, Estévez R, Pan HL, Geha RS, Shi Q, Benavides F. Bao J, et al. Among authors: gaitan penas h. JCI Insight. 2018 Aug 23;3(16):e99767. doi: 10.1172/jci.insight.99767. eCollection 2018 Aug 23. JCI Insight. 2018. PMID: 30135305 Free PMC article.
17 results