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2025
Mark Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) : An emerging mitochondrial disorder
Ng, Bobby G. ; Eklund, Erik A. ^LU ; Rosenfeld, Jill A. ; Elias, Abdallah F. ; Abu-El-Haija, Aya ; Bris, Celine ; Barth, Magalie ; Chae, Jong Hee ; Choi, Murim and Dubbs, Holly A. , et al. (2025) In Genetics in Medicine Open 3.
- Contribution to journal › Article
2020
Mark Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice
Tomašić, Nikica ^LU ; Kotarsky, Heike ^LU ; de Oliveira Figueiredo, Rejane ; Hansson, Eva ^LU ; Mörgelin, Matthias ^LU ; Tomašić, Ivan ; Kallijärvi, Jukka ^LU ; Elmér, Eskil ^LU ; Jauhiainen, Matti and Eklund, Erik A. ^LU , et al. (2020) In Biochimica et Biophysica Acta - Molecular Basis of Disease 1866(1).
- Contribution to journal › Article
Mark Mitochondrial dysfunction and calcium dysregulation in leigh syndrome induced pluripotent stem cell derived neurons
Galera-Monge, Teresa ; Zurita-Díaz, Francisco ; Canals, Isaac ^LU ; Hansen, Marita Grønning ^LU ; Rufián-Vázquez, Laura ; Ehinger, Johannes K. ^LU ; Elmér, Eskil ^LU ; Martin, Miguel A. ; Garesse, Rafael and Ahlenius, Henrik ^LU , et al. (2020) In International Journal of Molecular Sciences 21(9).
- Contribution to journal › Article
2018
Mark Alternative oxidase-mediated respiration prevents lethal mitochondrial cardiomyopathy
Rajendran, Jayasimman ; Purhonen, Janne ; Tegelberg, Saara ^LU ; Smolander, Olli Pekka ; Mörgelin, Matthias ^LU ; Rozman, Jan ; Gailus-Durner, Valerie ; Fuchs, Helmut ; Hrabe de Angelis, Martin and Auvinen, Petri , et al. (2018) In EMBO Molecular Medicine 2018.
- Contribution to journal › Article
2017
Mark Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Tegelberg, Saara ^LU ; Tomašić, Nikica ^LU ; Kallijärvi, Jukka ^LU ; Purhonen, Janne ; Elmér, Eskil ^LU ; Lindberg, Eva ; Nord, David Gisselsson ^LU ; Soller, Maria ^LU ; Lesko, Nicole and Wedell, Anna , et al. (2017) In Orphanet Journal of Rare Diseases 12(1).
- Contribution to journal › Article
Mark Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease
Westerlund, Emil ^LU ; Marelsson, Sigurður E ^LU ; Ehinger, Johannes K ^LU ; Sjövall, Fredrik ^LU ; Morota, Saori ^LU ; Åsander Frostner, Eleonor ^LU ; Oldfors, Anders ; Darin, Niklas ; Lundgren, Johan ^LU and Hansson, Magnus J ^LU , et al. (2017) In Pediatric Research 83. p.455-465
- Contribution to journal › Article
2016
Mark Effect of high-carbohydrate diet on plasma metabolome in mice with mitochondrial respiratory chain complex III deficiency
Rajendran, Jayasimman ; Tomasic, Nikica ^LU ; Kotarsky, Heike ^LU ; Hansson, Eva ^LU ; Velagapudi, Vidya ; Kallijärvi, Jukka ^LU and Fellman, Vineta ^LU (2016) In International Journal of Molecular Sciences 17(11).
- Contribution to journal › Article

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