Xavier Capdevila‐Nortes

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

Tania López-Hernández, Margreet C. Ridder, Marisol Montolio et al. · The American Journal of Human Genetics · 2011 · 194 citations · Full text

Medicine, Neurobiology, Neuroscience +14

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

Elena Jeworutzki, Tania López-Hernández, Xavier Capdevila‐Nortes et al. · Neuron · 2012 · 143 citations · Full text

Medicine, Molecular Biology, Neuroscience +8

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

Tania López-Hernández, Sònia Sirisi, Xavier Capdevila‐Nortes et al. · Human Molecular Genetics · 2011 · 99 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation

Margreet C. Ridder, Ilja Boor, Johannes C. Lodder et al. · Brain · 2011 · 89 citations

Medicine, Neurology, Neuroscience +17

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Anna Duarri, Miguel López de Heredia, Xavier Capdevila‐Nortes et al. · Neurobiology of Disease · 2011 · 74 citations · Full text

Life Sciences, Cell Biology, Neuroscience +13