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Seminars in Fetal & Neonatal Medicine|May 21, 2011
Neonatal muscular manifestations in mitochondrial disordersMár Tulinius, Anders OldforsJournal of Neuropathology and Experimental Neurology|March 18, 2003
Mitochondrial encephalomyopathiesAnders Oldfors, Már TuliniusNeuromuscular Disorders : NMD|May 24, 2005
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletionMár Tulinius, Ali-Reza Moslemi, Niklas Darin, et al.Acta Paediatrica (Oslo, Norway : 1992)|April 24, 2012
Distal arthrogryposis: clinical and genetic findingsEva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, et al.Mitochondrion|May 7, 2019
Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiencyKalliopi Sofou, Carola Hedberg-Oldfors, Gittan Kollberg, et al.Brain : a Journal of Neurology|July 2, 2009
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathyGittan Kollberg, Már Tulinius, Atle Melberg, et al.Neuromuscular Disorders : NMD|January 14, 2009
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletionGittan Kollberg, Niklas Darin, Karin Benan, et al.The New England Journal of Medicine|October 12, 2007
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0Gittan Kollberg, Már Tulinius, Thomas Gilljam, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 13, 2012
Phenotypic and genotypic variability in Alpers syndromeKalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, et al.Journal of Neuropathology and Experimental Neurology|August 10, 2006
POLG1 mutations associated with progressive encephalopathy in childhoodGittan Kollberg, Ali-Reza Moslemi, Niklas Darin, et al.Pageof 18