Anna Duarri

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

Mutations in potassium channel <i>kcnd3</i> cause spinocerebellar ataxia type 19

Anna Duarri, Justyna Jezierska, Michiel R. Fokkens et al. · Annals of Neurology · 2012 · 134 citations · Full text

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Esther Nibbeling, Anna Duarri, Corien C. Verschuuren‐Bemelmans et al. · Brain · 2017 · 121 citations · Full text

Exome Sequencing, Genetics, Genetic Epidemiology +17

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

Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects

Anna Duarri, Óscar Teijido, Tania López-Hernández et al. · Human Molecular Genetics · 2008 · 85 citations · Full text

Molecular Pathogenesis, Neurological Disorder, Immunology +20