Anna H. Hakonen
University of Helsinki(FI)Helsinki University Hospital(FI)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, Metabolism and Genetic Disorders, Cell Adhesion Molecules Research, Genomics and Rare Diseases
Most-Cited Works
- → FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study(2011)419 cited
- → Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin(2005)306 cited
- → Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion(2007)197 cited
- → Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease(2007)154 cited
- → Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion(2008)135 cited
- → Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders(2007)81 cited
- → Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers(2018)72 cited
- → POLG1 manifestations in childhood(2011)56 cited
- → A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)(2018)24 cited
- → Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia(2011)21 cited