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Richard J Rodenburg

Showing results (61-70 of 137) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|April 30, 2024
Biallelic Variants of MRPS36 Cause a New Form of Leigh SyndromeSerena Galosi, Cecilia Mancini, Anna Commone, et al.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
Nature Microbiology|December 20, 2016
Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytesEkta Lachmandas, Lily Boutens, Jacqueline M Ratter, et al.
Elife|March 7, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.
Plos One|August 13, 2013
Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profilingHans J C T Wessels, Rutger O Vogel, Robert N Lightowlers, et al.
Biochimica Et Biophysica Acta. Bioenergetics|January 7, 2021
Soluble adenylyl cyclase regulates the cytosolic NADH/NAD<sup>+</sup> redox state and the bioenergetic switch between glycolysis and oxidative phosphorylationJung-Chin Chang, Simei Go, Eduardo H Gilglioni, et al.
Neurology|July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new <i>ALG14</i>-CDGDavid C Schorling, Simone Rost, Dirk J Lefeber, et al.
International Journal of Molecular Sciences|December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers SyndromeSofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Molecular Genetics and Metabolism|February 21, 2017
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunctionPäivi Vieira, Jessie Cameron, Elisa Rahikkala, et al.
Endocrine-Related Cancer|November 6, 2020
Loss of sdhb in zebrafish larvae recapitulates human paraganglioma characteristicsMargo Dona, Selma Waaijers, Susan Richter, et al.
Pageof 14

Showing results (61-70 of 137) with videos related to

Sort By:
Pageof 14
Movement Disorders : Official Journal of the Movement Disorder Society|April 30, 2024
Biallelic Variants of MRPS36 Cause a New Form of Leigh SyndromeSerena Galosi, Cecilia Mancini, Anna Commone, et al.
Stem Cell Research & Therapy|June 26, 2017
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cellsMarlen Melcher, Katharina Danhauser, Annette Seibt, et al.
Nature Microbiology|December 20, 2016
Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytesEkta Lachmandas, Lily Boutens, Jacqueline M Ratter, et al.
Elife|March 7, 2023
Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencyBryn D Webb, Sara M Nowinski, Ashley Solmonson, et al.
Plos One|August 13, 2013
Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profilingHans J C T Wessels, Rutger O Vogel, Robert N Lightowlers, et al.
Biochimica Et Biophysica Acta. Bioenergetics|January 7, 2021
Soluble adenylyl cyclase regulates the cytosolic NADH/NAD<sup>+</sup> redox state and the bioenergetic switch between glycolysis and oxidative phosphorylationJung-Chin Chang, Simei Go, Eduardo H Gilglioni, et al.
Neurology|July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new <i>ALG14</i>-CDGDavid C Schorling, Simone Rost, Dirk J Lefeber, et al.
International Journal of Molecular Sciences|December 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers SyndromeSofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque, et al.
Molecular Genetics and Metabolism|February 21, 2017
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunctionPäivi Vieira, Jessie Cameron, Elisa Rahikkala, et al.
Endocrine-Related Cancer|November 6, 2020
Loss of sdhb in zebrafish larvae recapitulates human paraganglioma characteristicsMargo Dona, Selma Waaijers, Susan Richter, et al.
Pageof 14