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| Dong 2024 Orphanet J Rare Dis | Dong Q, Yin X, Fan S, Zhong S, Yang W, Chen K, Wang Q, Ma X, Mahlatsi RL, Yang Y, Lyu J, Fang H, Wang Y (2024) IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency. Orphanet J Rare Dis 19:305. https://doi.org/10.1186/s13023-024-03310-x | 2024 | PMID: 39169373 Open Access |
| Catania 2019 Orphanet J Rare Dis | Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, BΓ©nit 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, TomaΕ‘iΔ N, KallijΓ€rvi J, Purhonen J, ElmΓ©r 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 |
