Anu Suomalainen

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti et al. · Nature Genetics · 2001 · 879 citations

Mitochondrial Biogenesis, Mitochondrial Function, Mitochondrial Dynamic +8

Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

Jyrki Kaukonen, Jukka K. Juselius, Valeria Tiranti et al. · Science · 2000 · 630 citations

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Petri Luoma, Atle Melberg, Juha O. Rinne et al. · The Lancet · 2004 · 540 citations

Neurodegenerative Diseases, Molecular Genetic Study, Genetic Disorder +12

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely et al. · Brain · 2007 · 416 citations · Full text

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 · 414 citations · Full text

Diagnostic Study, Fibrosis, Mitochondrial Function +3