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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.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.Mitochondrion|January 24, 2015
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, et al.JIMD Reports|September 9, 2016
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic CounsellingSabine Grønborg, Niklas Darin, Maria J Miranda, et al.Orphanet Journal of Rare Diseases|February 12, 2017
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage diseaseMaja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, et al.Journal of Inherited Metabolic Disease|July 6, 2019
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolismElizabeth Jennions, Carola Hedberg-Oldfors, Anna-Karin Berglund, et al.Journal of Medical Genetics|December 7, 2021
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre studyKristoffer Björkman, John Vissing, Elsebet Østergaard, et al.American Journal of Medical Genetics. Part A|June 19, 2025
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)Sarah Donoghue, Smitha Kumble, Pontus Wasling, et al.Brain : a Journal of Neurology|September 2, 2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathyRita Horvath, John P Kemp, Helen A L Tuppen, et al.Pageof 3