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A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. Malfatti E, et al. Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31. Ann Neurol. 2014. PMID: 25272951 Free PMC article.
Mitochondrial pathology in inclusion body myositis.
Lindgren U, Roos S, Hedberg Oldfors C, Moslemi AR, Lindberg C, Oldfors A. Lindgren U, et al. Neuromuscul Disord. 2015 Apr;25(4):281-8. doi: 10.1016/j.nmd.2014.12.010. Epub 2015 Jan 6. Neuromuscul Disord. 2015. PMID: 25638290
Early onset cardiomyopathy in females with Danon disease.
Hedberg Oldfors C, Máthé G, Thomson K, Tulinius M, Karason K, Östman-Smith I, Oldfors A. Hedberg Oldfors C, et al. Neuromuscul Disord. 2015 Jun;25(6):493-501. doi: 10.1016/j.nmd.2015.03.005. Epub 2015 Mar 16. Neuromuscul Disord. 2015. PMID: 25900304
Polyglucosan storage myopathies.
Hedberg-Oldfors C, Oldfors A. Hedberg-Oldfors C, et al. Mol Aspects Med. 2015 Dec;46:85-100. doi: 10.1016/j.mam.2015.08.006. Epub 2015 Aug 13. Mol Aspects Med. 2015. PMID: 26278982 Review.
48 results