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Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors C, Glamuzina E, Ruygrok P, Anderson LJ, Elliott P, Watkinson O, Occleshaw C, Abernathy M, Turner C, Kingston N, Murphy E, Oldfors A. Hedberg-Oldfors C, et al. Among authors: oldfors a. J Inherit Metab Dis. 2017 Jan;40(1):139-149. doi: 10.1007/s10545-016-9978-1. Epub 2016 Oct 7. J Inherit Metab Dis. 2017. PMID: 27718144 Free PMC article.
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A. Nilsson J, et al. Among authors: oldfors a. Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963. Ann Neurol. 2013. PMID: 23798481 Free article.
New insights in the field of muscle glycogenoses.
Oldfors A, DiMauro S. Oldfors A, et al. Curr Opin Neurol. 2013 Oct;26(5):544-53. doi: 10.1097/WCO.0b013e328364dbdc. Curr Opin Neurol. 2013. PMID: 23995275 Review.
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. Among authors: oldfors a. 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. Among authors: oldfors a. 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. Among authors: oldfors a. 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
296 results