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Neurology. Genetics|July 9, 2020
COX deficiency and leukoencephalopathy due to a novel homozygous <i>APOPT1/COA8</i> mutationCarola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, et al.European Journal of Neurology|March 18, 2024
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriersAntri Savvidou, Kalliopi Sofou, Erik A Eklund, et al.Acta Paediatrica (Oslo, Norway : 1992)|January 22, 2009
A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophyEva Arkblad, Már Tulinius, Anna-Karin Kroksmark, et al.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.Journal of Neurology|March 3, 2004
Induced shift in myosin heavy chain expression in myosin myopathy by endurance trainingHoma Tajsharghi, Katharina Stibrant Sunnerhagen, Niklas Darin, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 3, 2012
Cerebrospinal fluid biomarkers in neurological diseases in childrenPashtun Shahim, Jan-Eric Månsson, Niklas Darin, et al.Pediatric Neurology|February 6, 2007
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosisNiklas Darin, Oluf Andersen, Lars-Martin Wiklund, 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|December 23, 2008
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduriaNiklas Darin, Mårten Kyllerman, Anna-Lena Hård, et al.Journal of Inherited Metabolic Disease|January 20, 2017
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomesKalliopi Sofou, Maria Dahlin, Tove Hallböök, et al.Pageof 10