María Eugenia Yoldi

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Devesh C. Pant, Imen Dorboz, Agatha Schlüter et al. · Journal of Clinical Investigation · 2019 · 106 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

Aleix Navarro‐Sastre, Frederic Tort, Judit García‐Villoria et al. · Molecular Genetics and Metabolism · 2012 · 42 citations

Life Sciences, Genetics, Molecular Biology +14

Delineating the neurological phenotype in children with defects in the <scp><i>ECHS1</i></scp> or <scp><i>HIBCH</i></scp> gene

Laura Martí‐Sánchez, Heidy Baide‐Mairena, Anna Marcé‐Grau et al. · Journal of Inherited Metabolic Disease · 2020 · 38 citations

Life Sciences, Genetics, Neurology +12

Homozygous deletion of an <i>EGR2</i> enhancer in congenital amyelinating neuropathy

Benoît Funalot, Piotr Topilko, María Antonia Ramos Arroyo et al. · Annals of Neurology · 2012 · 25 citations

Medicine, Genetics, Neuroscience +17

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Agatha Schlüter, Agustí Rodríguez‐Palmero, Edgard Verdura et al. · Neurology · 2022 · 22 citations · Full text

Life Sciences, Genetics, Neurology +14