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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.
Brain Pathology (Zurich, Switzerland)|November 22, 2021
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variantSara Roos, Carola Hedberg-Oldfors, Kittichate Visuttijai, et al.
Neuroimage. Clinical|June 8, 2019
Structural anomaly in the reticular formation in narcolepsy type 1, suggesting lower levels of neuromelaninNatasha Morales Drissi, Marcel Warntjes, Alexander Wessén, et al.
European Journal of Human Genetics : EJHG|August 4, 2016
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiencyCarola Hedberg-Oldfors, Niklas Darin, Mia Olsson Engman, et al.
Frontiers in Endocrinology|December 22, 2018
Unexpected Fat Distribution in Adolescents With NarcolepsyNatasha Morales Drissi, Thobias Romu, Anne-Marie Landtblom, 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.
RSC Advances|September 11, 2024
Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin functionTuomas Mansikkala, Salla M Kangas, Ilkka Miinalainen, et al.
Neuromuscular Disorders : NMD|February 13, 2021
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathyNiklas Darin, Triinu Siibak, Bradley Peter, et al.
Plos One|June 20, 2015
Neuronal Antibodies in Children with or without Narcolepsy following H1N1-AS03 VaccinationSimon Thebault, Patrick Waters, Matthew D Snape, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndromeKalliopi Sofou, Gittan Kollberg, Maria Holmström, et al.
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