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Year Number of Results
2011 4
2012 2
2013 1
2014 2
2015 1
2017 2
2018 1
2021 0
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12 results
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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: capdevila nortes x. 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 Review.
Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 and ClC-2 in astrocytes: implications in megalencephalic leukoencephalopathy.
Sirisi S, Elorza-Vidal X, Arnedo T, Armand-Ugón M, Callejo G, Capdevila-Nortes X, López-Hernández T, Schulte U, Barrallo-Gimeno A, Nunes V, Gasull X, Estévez R. Sirisi S, et al. Among authors: capdevila nortes x. Hum Mol Genet. 2017 Jul 1;26(13):2436-2450. doi: 10.1093/hmg/ddx134. Hum Mol Genet. 2017. PMID: 28398517
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: capdevila nortes x. 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.
GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit.
Jeworutzki E, López-Hernández T, Capdevila-Nortes X, Sirisi S, Bengtsson L, Montolio M, Zifarelli G, Arnedo T, Müller CS, Schulte U, Nunes V, Martínez A, Jentsch TJ, Gasull X, Pusch M, Estévez R. Jeworutzki E, et al. Among authors: capdevila nortes x. Neuron. 2012 Mar 8;73(5):951-61. doi: 10.1016/j.neuron.2011.12.039. Neuron. 2012. PMID: 22405205 Free PMC article.
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, Estévez R. Duarri A, et al. Among authors: capdevila nortes x. Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3. Neurobiol Dis. 2011. PMID: 21440627 Free PMC article.
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS. López-Hernández T, et al. Among authors: capdevila nortes x. Am J Hum Genet. 2011 Apr 8;88(4):422-32. doi: 10.1016/j.ajhg.2011.02.009. Epub 2011 Mar 17. Am J Hum Genet. 2011. PMID: 21419380 Free PMC article.
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