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Catania 2019 Orphanet J Rare Dis | Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M (2019) Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls. Orphanet J Rare Dis 14:236. doi: 10.1186/s13023-019-1185-3 | 2019 | PMID: 31665043 Open Access |
Tegelberg 2017 Orphanet J Rare Dis | Tegelberg S, Tomašić N, Kallijärvi J, Purhonen J, Elmér E, Lindberg E, Nord DG, Soller M, Lesko N, Wedell A, Bruhn H, Freyer C, Stranneheim H, Wibom R, Nennesmo I, Wredenberg A, Eklund EA, Fellman V (2017) Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. Orphanet J Rare Dis 12:73. | 2017 | PMID: 28427446 Open Access |
Mueller 2017 Orphanet J Rare Dis | Mueller SM, Gehrig SM, Petersen JA, Frese S, Mihaylova V, Ligon-Auer M, Khmara N, Nuoffer JM, Schaller A, Lundby C, Toigo M, Jung HH (2017) Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Orphanet J Rare Dis 12:184. | 2017 | PMID: 29258585 |
Gehrig 2016 Orphanet J Rare Dis | Gehrig SM, Mihaylova V, Frese S, Mueller SM, Ligon-Auer M, Spengler CM, Petersen JA, Lundby C, Jung HH (2016) Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopath. Orphanet J Rare Dis 11:105. | 2016 | PMID: 27473873 Open Access |