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Heliyon|March 5, 2024
Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle fibersEmil Westerlund, Sigurður E Marelsson, Michael Karlsson, et al.Orphanet Journal of Rare Diseases|April 16, 2014
A multicenter study on Leigh syndrome: disease course and predictors of survivalKalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, et al.Annals of Clinical and Translational Neurology|September 19, 2020
The impact of gender, puberty, and pregnancy in patients with POLG diseaseOmar Hikmat, Karin Naess, Martin Engvall, et al.Journal of Inherited Metabolic Disease|April 11, 2022
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathyMarit Schwantje, Merel S Ebberink, Mirjam Doolaard, et al.EMBO Molecular Medicine|May 3, 2021
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like diseaseKalliopi Sofou, Kolja Meier, Leslie E Sanderson, et al.European Journal of Human Genetics : EJHG|March 12, 2020
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disabilityIris G M Wijnen, Hermine E Veenstra-Knol, Fleur Vansenne, et al.Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, et al.American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.The New England Journal of Medicine|March 25, 2011
Systemic administration of PRO051 in Duchenne's muscular dystrophyNathalie M Goemans, Mar Tulinius, Johanna T van den Akker, et al.Journal of Inherited Metabolic Disease|November 15, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 PatientsErle Kristensen, Karin Naess, Martin Engvall, et al.Pageof 10