Kunskapsstöd, forskning och utveckling (FoUUI)

Lokala, regionala, nationella och internationella kunskapsstöd som expertteamet använder sig av samt vetenskapliga publikationer av expertteamet.

Lokala kunskapsstöd

  •  

Regionala kunskapsstöd

  •  

Nationella kunskapsstöd

  •  

Internationella kunskapsstöd

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.