Rogelio Simón de las Heras

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

Aleix Navarro‐Sastre, Elena Martín‐Hernández, Yolanda Campos et al. · Molecular Genetics and Metabolism · 2008 · 47 citations

Medicine, Hematology, Molecular Genetics +8

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

Elena Martín‐Hernández, María Elena Rodríguez‐García, Ana Camacho et al. · Neurogenetics · 2016 · 44 citations

Life Sciences, Genetics, Molecular Genetics +15

Acute stroke care during the COVID-19 pandemic. Ictus Madrid Program recommendations

Jorge Rodríguez‐Pardo, Blanca Fuentes, J. Campollo et al. · Neurología (English Edition) · 2020 · 37 citations · Full text

Medicine, Infectious Diseases, Neurology +17

Whole-Exome Sequencing Identifies a Variant of the Mitochondrial<i>MT-ND1</i>Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

Aitor Delmiro, Henry Rivera, María Teresa García‐Silva et al. · Human Mutation · 2013 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

Ichthyosis: The Skin Manifestation of Multiple Sulfatase Deficiency

E. Castaño Sudrez, A. Segurado Rodriguez, Aurora Guerra Tàpia et al. · Pediatric Dermatology · 1997 · 27 citations

Medicine, Dermatology, Pathology +15