Johanna Uusimaa

Johanna Uusimaa

University of Oulu - Oulu / Finland
Others
AD Scientific Index ID: 1658760
Oulun yliopisto
person_outline Johanna Uusimaa's MOST POPULAR ARTICLES
1-) FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic studyA Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ...The Lancet Neurology 10 (9), 806-818, 20114002011
2-) A multicenter study on Leigh syndrome: disease course and predictors of survivalK Sofou, IFM De Coo, P Isohanni, E Ostergaard, K Naess, L De Meirleir, ...Orphanet journal of rare diseases 9 (1), 1-16, 20141942014
3-) Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptomsB Tesi, J Davidsson, M Voss, E Rahikkala, TD Holmes, SCC Chiang, ...Blood, The Journal of the American Society of Hematology 129 (16), 2266-2279, 20171862017
4-) FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disordersJM Lehtonen, S Forsström, E Bottani, C Viscomi, OR Baris, H Isoniemi, ...Neurology 87 (22), 2290-2299, 20162192016
5-) Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathyJM Elo, SS Yadavalli, L Euro, P Isohanni, A Götz, CJ Carroll, L Valanne, ...Human molecular genetics 21 (20), 4521-4529, 20122012012