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Neuromuscular Disorders : NMD|October 23, 2009
Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathyGittan Kollberg, Elisabeth Holme
Neuromuscular Disorders : NMD|January 4, 2011
Transient restoration of succinate dehydrogenase activity after rhabdomyolysis in iron-sulphur cluster deficiency myopathyGittan Kollberg, Atle Melberg, Elisabeth Holme, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 17, 2021
The phenotypic variability and natural history of NARS2 associated diseaseKalliopi Sofou, Gittan Kollberg, Carola Hedberg-Oldfors, et al.
Journal of Neuropathology and Experimental Neurology|March 9, 2005
Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit IGittan Kollberg, Ali-Reza Moslemi, Christopher Lindberg, et al.
Antiviral Therapy|September 13, 2006
Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected patientsAnne Maagaard, Mona Holberg-Petersen, Gittan Kollberg, et al.
European Journal of Pediatrics|June 16, 2009
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduriaElsebet Ostergaard, Marianne Schwartz, Mustafa Batbayli, et al.
The Journal of Biological Chemistry|February 8, 2011
Deoxyribonucleotide metabolism in cycling and resting human fibroblasts with a missense mutation in p53R2, a subunit of ribonucleotide reductaseGiovanna Pontarin, Paola Ferraro, Chiara Rampazzo, 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.
Mitochondrion|May 7, 2019
Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiencyKalliopi Sofou, Carola Hedberg-Oldfors, Gittan Kollberg, et al.
Neurology|April 14, 2026
A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and SurvivalAntri Savvidou, Kalliopi Sofou, Sofia Thunström, et al.
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