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 · 189 citations · Full text

Neurobiology Of Disease, Neurological Disorder, Medicine +10

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 · 142 citations · Full text

Protein Function, Molecular Physiology, Biochemistry +9

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 · 98 citations · Full text

Neurological Disorder, Pathology, Glioma +19

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

Margreet C. Ridder, Ilja Boor, Johannes C. Lodder et al. · Brain · 2011 · 87 citations

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 · 72 citations · Full text

Cell Vacuolation, Cell Regulation, Cell Signaling +9