Sanna Marjavaara

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen et al. · The Lancet Neurology · 2011 · 421 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +14

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Anna H. Hakonen, Steffi Goffart, Sanna Marjavaara et al. · Human Molecular Genetics · 2008 · 135 citations · Full text

Life Sciences, Genetics, Neurology +17

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

Alexandra Götz, Pirjo Isohanni, Helena Pihko et al. · Brain · 2008 · 83 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>DARS2</i> mutations in mitochondrial leucoencephalopathy and multiple sclerosis

Pirjo Isohanni, Tarja Linnankivi, Jana Buzková et al. · Journal of Medical Genetics · 2009 · 68 citations · Full text

Life Sciences, Genetics, Neurology +17

Deficiency of the INCL protein Ppt1 results in changes in ectopic F1-ATP synthase and altered cholesterol metabolism

Annina Lyly, Sanna Marjavaara, Aija Kyttälä et al. · Human Molecular Genetics · 2008 · 66 citations · Full text

Life Sciences, Biochemistry, Neuroscience +17