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Neuromuscular Disorders : NMD|May 24, 2005
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletionMár Tulinius, Ali-Reza Moslemi, Niklas Darin, et al.Acta Paediatrica (Oslo, Norway : 1992)|April 24, 2012
Distal arthrogryposis: clinical and genetic findingsEva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, et al.Journal of Neurology|August 28, 2025
A population-based study of severe, less common comorbidities in Duchenne muscular dystrophyLisa Wahlgren, Sara Nordström, Már Tulinius, et al.Mitochondrion|April 30, 2013
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvementKalliopi Sofou, Karin Steneryd, Lars-Martin Wiklund, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 10, 2019
Quality of life of patients with spinal muscular atrophy: A systematic reviewErik Landfeldt, Josefin Edström, Thomas Sejersen, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 30, 2008
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood formsAnne-Berit Ekström, Louise Hakenäs-Plate, Lena Samuelsson, et al.Developmental Medicine and Child Neurology|January 11, 2007
Orofacial dysfunction in children and adolescents with myotonic dystrophyLotta Sjögreen, Monica Engvall, Anne-Berit Ekström, et al.Neuromuscular Disorders : NMD|March 26, 2026
Living with Duchenne muscular dystrophy as an adult: motor function, ventilatory assistance and health-related quality of lifeLisa Wahlgren, Sara Nordström, Anna-Karin Kroksmark, et al.Mitochondrion|July 14, 2018
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease patientsKalliopi Sofou, Pashtun Shahim, Már Tulinius, 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.Pageof 5