Showing results (81-90 of 107) with videos related to

Sort By:
Pageof 11
Nature Communications|June 25, 2025
The mitochondrial methylation potential gates mitoribosome assemblyRuth I C Glasgow, Vivek Singh, Lucía Peña-Pérez, et al.
American Journal of Human Genetics|October 4, 2011
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver functionMagnus K Bjursell, Henk J Blom, Jordi Asin Cayuela, et al.
Orphanet Journal of Rare Diseases|April 22, 2017
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse modelSaara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, et al.
Journal of Medical Genetics|June 19, 2015
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acidChristoph Freyer, Henrik Stranneheim, Karin Naess, et al.
BMC Genomics|December 16, 2014
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolismHenrik Stranneheim, Martin Engvall, Karin Naess, et al.
Human Molecular Genetics|September 17, 2015
Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathyCharlotte Gineste, Andres Hernandez, Niklas Ivarsson, et al.
European Journal of Human Genetics : EJHG|May 14, 2015
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Emma Tham, Erik A Eklund, Anna Hammarsjö, et al.
NPJ Parkinson'S Disease|April 29, 2024
PARKIN is not required to sustain OXPHOS function in adult mammalian tissuesRoberta Filograna, Jule Gerlach, Hae-Na Choi, et al.
Human Molecular Genetics|June 3, 2026
MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairmentRuth I C Glasgow, Finn Lennartsson, Snjolaug Arnardottir, et al.
Science Advances|February 20, 2021
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clustersFlorian A Rosenberger, David Moore, Ilian Atanassov, et al.
Pageof 11