Publications by authors named "Carla Perez-Rius"

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Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia.
Clara Mayayo-Vallverdú, Héctor Gaitán-Peñas, Mercedes Armand-Ugon, Ashraf Muhaisen, Esther Prat

J Physiol· September 2024

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Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia.
Héctor Gaitán-Peñas, Carla Pérez-Rius, Ashraf Muhaisen, Aida Castellanos, Ekaitz Errasti-Murugarren

J Physiol· August 2024

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Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
Anna Marcé-Grau, Xabier Elorza-Vidal, Carla Pérez-Rius, Anna Ruiz-Nel Lo, Júlia Sala-Coromina

Hum Mutat· October 2021

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Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
Carla Pérez-Rius, Mónica Folgueira, Xabier Elorza-Vidal, A Alia, Maja B Hoegg-Beiler

Orphanet J Rare Dis· November 2019

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Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.
Carla Pérez-Rius, Aida Castellanos, Héctor Gaitán-Peñas, Almudena Navarro, Rafael Artuch

J Physiol· August 2019

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GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy.
Xabier Elorza-Vidal, Sònia Sirisi, Héctor Gaitán-Peñas, Carla Pérez-Rius, Marta Alonso-Gardón

Neurobiol Dis· November 2018

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Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Raúl Estévez, Xabier Elorza-Vidal, Héctor Gaitán-Peñas, Carla Pérez-Rius, Mercedes Armand-Ugón

Eur J Med Genet· January 2018

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Identification and characterization of the zebrafish ClC-2 chloride channel orthologs.
Carla Pérez-Rius, Héctor Gaitán-Peñas, Raúl Estévez, Alejandro Barrallo-Gimeno

Pflugers Arch· August 2015

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sònia Sirisi, Mónica Folgueira, Tania López-Hernández, Laura Minieri, Carla Pérez-Rius

Hum Mol Genet· October 2014

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