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Xavier Capdevila-Nortes

University of Barcelona

12

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553

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Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective

2018 European Journal of Medical Genetics
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Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy

2014 Human Mutation
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Megalencephalic Leukoencephalopathy with subcortical Cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans

2014 Human Molecular Genetics
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Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents

2013 Human Molecular Genetics
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A modification of the split-tobacco etch virus method for monitoring interactions between membrane proteins in mammalian cells

2012 Analytical Biochemistry
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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

2011 Neurobiology of Disease
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Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

2011 American Journal of Human Genetics
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Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation

2011 Brain
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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

2011 Human Molecular Genetics
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Citations (69)