Mariana Loos

Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone, Robert W. Taylor, A. Nascimento et al. · Journal of Medical Genetics · 2018 · 101 citations · Full text

Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers

Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos et al. · Epilepsy Research · 2018 · 18 citations

Electroencephalographic Markers, Pediatric Hydrocephalus, Cerebrospinal Fluid +5

Mitochondrial stress triggers a pro-survival response through epigenetic modifications of nuclear DNA

Lía Mayorga, Betiana Nebaí Salassa, Diego M. Marzese et al. · Cellular and Molecular Life Sciences · 2019 · 15 citations · Full text

Reductive Stress, Chromatin, Genome Instability +12

CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases

Francesca Darra, Manuela Monchelato, Mariana Loos et al. · Epilepsy Research · 2023 · 12 citations

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Andrea Accogli, Sheng‐Jia Lin, Mariasavina Severino et al. · Genetics in Medicine · 2023 · 11 citations · Full text