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CLCN1 myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia

artículo científico publicado en 2018

Chloride Channels in Astrocytes: Structure, Roles in Brain Homeostasis and Implications in Disease ⬇️

artículo científico publicado en 2019

Cisplatin activates volume sensitive LRRC8 channel mediated currents in Xenopus oocytes

artículo científico publicado en 2017

Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice

article

Drosophila ClC-a is required in glia of the stem cell niche for proper neurogenesis and wiring of neural circuits

scientific article published on 03 September 2019

Expression of LRRC8/VRAC Currents in Xenopus Oocytes: Advantages and Caveats.

artículo científico publicado en 2018

GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy

scientific article published on 01 August 2018

Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients

artículo científico publicado en 2015

Investigation of LRRC8-Mediated Volume-Regulated Anion Currents in Xenopus Oocytes

artículo científico publicado en 2016

Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking.

artículo científico publicado en 2017

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.

artículo científico publicado en 2014

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.

artículo científico publicado en 2017

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption

scientific article published on 03 July 2019

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