Orphanet J Rare Dis

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Journal title and website Orphanet Journal of Rare Diseases


Tegelberg 2017 Orphanet J Rare DisTegelberg 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 12:73.2017PMID: 28427446 Open Access
Mueller 2017 Orphanet J Rare DisMueller 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 12:184.2017PMID: 29258585
Gehrig 2016 Orphanet J Rare DisGehrig 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 11:105.2016PMID: 27473873 Open Access