Johanna Uusimaa

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

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 · 243 citations · Full text

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Jenni M. Lehtonen, Saara Forsström, Emanuela Bottani et al. · Neurology · 2016 · 216 citations · Full text

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Elisa Rahikkala et al. · Blood · 2017 · 197 citations · Full text

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Jenni M. Elo, Srujana S. Yadavalli, Liliya Euro et al. · Human Molecular Genetics · 2012 · 165 citations · Full text

Mendelian Disorder, Trna Binding, Mitochondrial Function +11