Guillermo Agosta

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Long-term follow-up of the ketogenic diet for refractory epilepsy: Multicenter Argentinean experience in 216 pediatric patients

Roberto Caraballo, María Vaccarezza, Ricardo Cersósimo et al. · Seizure · 2011 · 129 citations · Full text

Nutrition, Ketogenic Diet, Refractory Epilepsy +4

Jugular venous oxygen saturation or arteriovenous difference of lactate content and outcome in children with severe traumatic brain injury*

Augusto Pérez, Pablo Minces, Eduardo Schnitzler et al. · Pediatric Critical Care Medicine · 2003 · 56 citations

CSF and Blood Levels of GFAP in Alexander Disease

Paige L. Jany, Guillermo Agosta, William Benko et al. · eNeuro · 2015 · 49 citations · Full text

Immunology, Gfap Levels, Pathology +21

Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy

Valeria Salinas, Patricia Vega, María Victoria Piccirilli et al. · European Journal of Medical Genetics · 2018 · 31 citations

High Depth, Somatic Mutation, Somatic Variant +8