Αποτελέσματα αναζήτησης - Xavier Capdevila‐Nortes
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Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts από Tania López-Hernández, Sònia Sirisi, Xavier Capdevila‐Nortes, Marisol Montolio, Víctor Fernández‐Dueñas, Gert C. Scheper, Marjo S. van der Knaap, Pilar Casquero, Francisco Ciruela, Isidró Ferrer, Virginia Nunes, Raúl Estévez
Έκδοση 2011Artigo -
2
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation από Margreet C. Ridder, Ilja Boor, Johannes C. Lodder, Nienke L. Postma, Xavier Capdevila‐Nortes, Anna Duarri, Arjen B. Brussaard, Raúl Estévez, Gert C. Scheper, Huibert D. Mansvelder, Marjo S. van der Knaap
Έκδοση 2011Artigo -
3
Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism από Tania López-Hernández, Margreet C. Ridder, Marisol Montolio, Xavier Capdevila‐Nortes, Emiel Polder, Sònia Sirisi, Anna Duarri, Uwe Schulte, Bernd Fakler, Virginia Nunes, Gert C. Scheper, Albert Martı́nez, Raúl Estévez, Marjo S. van der Knaap
Έκδοση 2011Artigo -
4
GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit από Elena Jeworutzki, Tania López-Hernández, Xavier Capdevila‐Nortes, Sònia Sirisi, Luiza Bengtsson, Marisol Montolio, Giovanni Zifarelli, Tanit Arnedo, Catrin Swantje Müller, Uwe Schulte, Virginia Nunes, Albert Martı́nez, Thomas J. Jentsch, Xavier Gasull, Michael Pusch, Raúl Estévez
Έκδοση 2012Artigo -
5
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model από Anna Duarri, Miguel López de Heredia, Xavier Capdevila‐Nortes, Margreet C. Ridder, Marisol Montolio, Tania López-Hernández, Ilja Boor, Chun‐Fu Lien, Tracy L. Hagemann, Albee Messing, Dariusz C. Górecki, Gert C. Scheper, Albert Martı́nez, Virginia Nunes, Marjo S. van der Knaap, Raúl Estévez
Έκδοση 2011Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Medicine
Pathology
Biology
Disease
Leukodystrophy
Cell biology
Gene
Genetics
Neuroscience
Astrocyte
Biochemistry
Central nervous system
Ion channel
Leukoencephalopathy
Mutation
Receptor
Biophysics
Cell
Cell culture
Colocalization
Cytoskeleton
Gene knockdown
Glial fibrillary acidic protein
HEK 293 cells
Immunohistochemistry
Immunostaining
Macrocephaly
Megalencephaly
Missense mutation
Molecular biology