Natalia Juliá‐Palacios

Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

Thaís Armangué, Gemma Olivé-Cirera, Eugenia Martínez‐Hernández et al. · The Lancet Neurology · 2020 · 314 citations

Multicentre Observational Study, Medicine, Neurological Disorder +8

<i>GRIN</i> database: A unified and manually curated repertoire of <i>GRIN</i> variants

Adrián García‐Recio, Ana Santos‐Gómez, David Soto et al. · Human Mutation · 2020 · 45 citations

Relational Database, Engineering, Disease Gene Identification +23

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Àngels García‐Cazorla, Edgard Verdura, Natalia Juliá‐Palacios et al. · Acta Neuropathologica · 2020 · 44 citations · Full text

Developmental Biology, Mitochondrial Function, Brain Development +10

U-IMD: the first Unified European registry for inherited metabolic diseases

Thomas Opladen, Florian Gleich, Viktor Kožich et al. · Orphanet Journal of Rare Diseases · 2021 · 38 citations · Full text

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function

Ana Santos‐Gómez, Federico Míguez‐Cabello, Adrián García‐Recio et al. · Human Molecular Genetics · 2020 · 33 citations · Full text

Imaging Genomics, Molecular Neuroscience, Variant Interpretation +15