Tuula Lönnqvist

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

Joni Nikkanen, Saara Forsström, Liliya Euro et al. · Cell Metabolism · 2016 · 290 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni et al. · Orphanet Journal of Rare Diseases · 2014 · 245 citations · Full text

Life Sciences, Neurology, Pediatrics +12

Cancer in Patients With Ataxia-Telangiectasia and in Their Relatives in the Nordic Countries

Jørgen H. Olsen, Johanne M D Hahnemann, A.L. Børresen-Dale et al. · JNCI Journal of the National Cancer Institute · 2001 · 241 citations

Medicine, Genetics, Oncology +17

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

Kaisu Nikali, Anu Suomalainen, Juha Saharinen et al. · Human Molecular Genetics · 2005 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

Anna H. Hakonen, Pirjo Isohanni, Anders Paetau et al. · Brain · 2007 · 197 citations · Full text

Life Sciences, Genetics, Neurology +17