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Richard J Rodenburg

Showing results (21-30 of 137) with videos related to

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JIMD Reports|September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
Frontiers in Genetics|April 12, 2019
A <i>Drosophila</i> Mitochondrial Complex I Deficiency Phenotype ArraySarah Foriel, G Herma Renkema, Yvonne Lasarzewski, et al.
Developmental Disabilities Research Reviews|September 7, 2010
Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular levelFederica Valsecchi, Werner J H Koopman, Ganesh R Manjeri, et al.
Molecular Genetics and Metabolism Reports|September 19, 2018
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodesAnnet M Bosch, Erik-Jan Kamsteeg, Richard J Rodenburg, et al.
American Journal of Ophthalmology Case Reports|May 17, 2024
Leber's hereditary optic neuropathy like disease in <i>MT-ATP6</i> variant m.8969G>ACansu de Muijnck, Mary J van Schooneveld, Astrid S Plomp, et al.
Cardiovascular Research|July 13, 2016
Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failureRob C I Wüst, Heder J de Vries, Liesbeth T Wintjes, et al.
Journal of Inherited Metabolic Disease|January 13, 2022
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndromeSelma L van Esveld, Richard J Rodenburg, Fathiya Al-Murshedi, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
Pediatric Research|July 4, 2008
Mitochondrial complex V expression and activity in cystinotic fibroblastsMartijn J Wilmer, Lambertus P van den Heuvel, Richard J Rodenburg, et al.
Neuromuscular Disorders : NMD|December 16, 2014
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmyBeverly Jo McCann, Helen A L Tuppen, Benno Küsters, et al.
Pageof 14

Showing results (21-30 of 137) with videos related to

Sort By:
Pageof 14
JIMD Reports|September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
Frontiers in Genetics|April 12, 2019
A <i>Drosophila</i> Mitochondrial Complex I Deficiency Phenotype ArraySarah Foriel, G Herma Renkema, Yvonne Lasarzewski, et al.
Developmental Disabilities Research Reviews|September 7, 2010
Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular levelFederica Valsecchi, Werner J H Koopman, Ganesh R Manjeri, et al.
Molecular Genetics and Metabolism Reports|September 19, 2018
Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodesAnnet M Bosch, Erik-Jan Kamsteeg, Richard J Rodenburg, et al.
American Journal of Ophthalmology Case Reports|May 17, 2024
Leber's hereditary optic neuropathy like disease in <i>MT-ATP6</i> variant m.8969G>ACansu de Muijnck, Mary J van Schooneveld, Astrid S Plomp, et al.
Cardiovascular Research|July 13, 2016
Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failureRob C I Wüst, Heder J de Vries, Liesbeth T Wintjes, et al.
Journal of Inherited Metabolic Disease|January 13, 2022
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndromeSelma L van Esveld, Richard J Rodenburg, Fathiya Al-Murshedi, et al.
European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.
Pediatric Research|July 4, 2008
Mitochondrial complex V expression and activity in cystinotic fibroblastsMartijn J Wilmer, Lambertus P van den Heuvel, Richard J Rodenburg, et al.
Neuromuscular Disorders : NMD|December 16, 2014
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmyBeverly Jo McCann, Helen A L Tuppen, Benno Küsters, et al.
Pageof 14