Area of research
Molecular Biology · Physiology
Research interest
Research interests include Medicine, Cohort, Biology, Autoantibody, Pneumonia, and Immunology.
Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Aberrant regulation of the GSK‐3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy