Leticia Pías‐Peleteiro

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat, K Naess, Martin Engvall et al. · Journal of Inherited Metabolic Disease · 2020 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cardiac phenotype in <i>ATP1A3</i> -related syndromes

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez‐García‐Rovés et al. · Neurology · 2020 · 43 citations · Full text

Life Sciences, Genetics, Neurology +14

Novel <scp>cerebrospinal fluid</scp> biomarkers of <scp>glucose transporter type 1</scp> deficiency syndrome: Implications beyond the brain's energy deficit

Tessa M. A. Peters, Jona Merx, Pieter C. Kooijman et al. · Journal of Inherited Metabolic Disease · 2022 · 17 citations · Full text

Life Sciences, Biochemistry, Neuroscience +16

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Cristina Jou, Juan Darío Ortigoza‐Escobar, Maria M O’Callaghan et al. · Journal of Clinical Medicine · 2019 · 16 citations · Full text

Medicine, Genetics, Pediatrics +17

Status epilepticus in POLG disease: a large multinational study

Omar Hikmat, K Naess, Martin Engvall et al. · Journal of Neurology · 2024 · 15 citations · Full text

Medicine, Genetics, Neurology +17