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Richard J Rodenburg

Showing results (71-80 of 137) with videos related to

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Annals of Neurology|April 30, 2014
Mutations in RARS cause hypomyelinationNicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
The Journal of Pathology|July 11, 2009
Enhanced number and activity of mitochondria in multiple sclerosis lesionsMaarten E Witte, Lars Bø, Richard J Rodenburg, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
Molecular Genetics and Metabolism|April 13, 2010
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficienciesSaskia J G Hoefs, Ola H Skjeldal, Richard J Rodenburg, et al.
Mitochondrion|February 23, 2018
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.
EMBO Molecular Medicine|November 19, 2016
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathwayMarcello Ziosi, Ivano Di Meo, Giulio Kleiner, et al.
European Journal of Human Genetics : EJHG|July 16, 2021
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
Pageof 14

Showing results (71-80 of 137) with videos related to

Sort By:
Pageof 14
Annals of Neurology|April 30, 2014
Mutations in RARS cause hypomyelinationNicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
The Journal of Pathology|July 11, 2009
Enhanced number and activity of mitochondria in multiple sclerosis lesionsMaarten E Witte, Lars Bø, Richard J Rodenburg, et al.
European Journal of Medical Genetics|July 12, 2012
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.
Molecular Genetics and Metabolism|April 13, 2010
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficienciesSaskia J G Hoefs, Ola H Skjeldal, Richard J Rodenburg, et al.
Mitochondrion|February 23, 2018
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)Karien Esterhuizen, J Zander Lindeque, Shayne Mason, et al.
EMBO Molecular Medicine|November 19, 2016
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathwayMarcello Ziosi, Ivano Di Meo, Giulio Kleiner, et al.
European Journal of Human Genetics : EJHG|July 16, 2021
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesisElke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
Pageof 14