Mireia del Toro

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Gillian Rice, Paul R. Kasher, Gabriella Forte et al. · Nature Genetics · 2012 · 916 citations · Full text

Autoimmune Disease, Genetic Disorder, Genetics +7

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 425 citations · Full text

Genetic Disorder, Aicardi-goutières Syndrome, Genetics +9

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

Aleix Navarro‐Sastre, Frederic Tort, Oliver Stehling et al. · The American Journal of Human Genetics · 2011 · 278 citations · Full text

Efficacy and safety of arimoclomol in <scp>Niemann‐Pick</scp> disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Eugen Mengel, Marc C. Patterson, Rosalia Maria Da Riol et al. · Journal of Inherited Metabolic Disease · 2021 · 86 citations · Full text

Clinical Neurology, Cardiovascular Pharmacology, Neurochemical Biomarkers +22

Prevalence of Psoriasis in Spain in the Age of Biologics

Carlos Ferrándiz, J.M. Carrascosa, Mireia del Toro · Actas Dermo-Sifiliográficas · 2014 · 75 citations · Full text

Current Prevalence, Medicine, Clinical Epidemiology +10