- Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy2008 | First Faculty of Medicine
- Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy2008 | Second Faculty of Medicine
- Neurogenetic and metabolic disorders in childhood2010 | First Faculty of Medicine
- Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports2010 | First Faculty of Medicine
- Sco2 Protein Deficiency-Based Mitochondrial Encephalomyopathy with the SMA-like Picture of Neurogenic Muscle Atrophy - Case Reports2010 | Second Faculty of Medicine
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene2006 | First Faculty of Medicine
- Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients2012 | First Faculty of Medicine
- Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop2018 | First Faculty of Medicine
- A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome2022 | First Faculty of Medicine
- Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T > C in MTND52016 | First Faculty of Medicine, Second Faculty of Medicine