Johanna Uusimaa
Oulu University Hospital(FI)University of Oulu(FI)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, ATP Synthase and ATPases Research, Genomics and Rare Diseases, Epilepsy research and treatment
Most-Cited Works
- → FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study(2011)419 cited
- → A multicenter study on Leigh syndrome: disease course and predictors of survival(2014)243 cited
- → FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders(2016)216 cited
- → Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms(2017)199 cited
- → Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy(2012)165 cited
- → SIRT5 is under the control of PGC‐1α and AMPK and is involved in regulation of mitochondrial energy metabolism(2014)135 cited