María Pérez-Poyato

Autoimmune post–herpes simplex encephalitis of adults and teenagers

Thaís Armangué, Germán Morís, Verónica Cantarín Extremera et al. · Neurology · 2015 · 268 citations · Full text

Life Sciences, Immunology, Neurology +16

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda et al. · Orphanet Journal of Rare Diseases · 2014 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Silvia M. Vidal, Núria Brandi, Paola Pacheco et al. · Scientific Reports · 2017 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso et al. · Scientific Reports · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism

Jesús Galán-Vidal, Paula G. Socuéllamos, María Baena-Nuevo et al. · Orphanet Journal of Rare Diseases · 2022 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17