Vetenskapliga publikationer där expertteamet medverkat
Roos S, Hedberg-Oldfors C, Visuttijai K, Stein M, Kollberg G, Elíasdóttir Ó, Lindberg C, Darin N, Oldfors A. Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant. Brain Pathol. 2021 Nov 21:e13038.
Darin N, Siibak T, Peter B, Hedberg-Oldfors C, Kollberg G, Kalbin V, Moslemi AR, Macao B, Oldfors A, Falkenberg M. Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy. Neuromuscul Disord. 2021 Apr;31(4):348-358.
Hedberg-Oldfors C, Macao B, Basu S, Lindberg C, Peter B, Erdinc D, Uhler JP, Larsson E, Falkenberg M, Oldfors A. (2020) Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO Neurol Genet 2020 Jan 10;6(1):e391. doi: 10.1212 PMID: 32042919
Hedberg-Oldfors C, Darin N, Thomsen C, Lindberg C, Oldfors A. (2020) COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation. Neurol Genet. 2020 Jun 16;6(4):e464. doi: 10.1212 PMID: 32637636
Visuttijai K, Hedberg-Oldfors C, Lindgren U, Nordström S, Elíasdóttir Ó, Lindberg C, Oldfors A. (2020) Progressive external ophthalmoplegia associated with novel MT-TN mutations Acta Neurol Scand. 2020 Aug 31. doi: 10.1111/ane.13339. PMID: 32869280,
Savvidou A, Ivarsson L, Naess K, Eklund EA, Lundgren J, Dahlin M, Frithiof D, Sofou K, Darin N. Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study. J Inherit Metab Dis. 2021 Dec 6. doi: 10.1002/jimd.12463. Epub ahead of print. PMID: 34873726.