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Richard Rodenburg

Showing results (11-20 of 33) with videos related to

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Journal of Clinical Medicine|August 23, 2019
Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I DeficiencySofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, et al.
Pediatric Nephrology (Berlin, Germany)|September 3, 2024
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathyKyle Ying-Kit Lin, Ching-Wan Lam, Eugene Yu-Hin Chan, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defectsPaulien Smits, Sandy Mattijssen, Eva Morava, et al.
Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
European Journal of Medical Genetics|May 17, 2016
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13Tuva Barøy, Christeen Ramane J Pedurupillay, Yngve T Bliksrud, et al.
Biochimica Et Biophysica Acta. Bioenergetics|April 11, 2020
TMEM70 functions in the assembly of complexes I and VLaura Sánchez-Caballero, Dei M Elurbe, Fabian Baertling, et al.
Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.
Journal of Cellular and Molecular Medicine|December 2, 2017
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytesTova Hallas, Binyamin Eisen, Yuval Shemer, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Cell Metabolism|September 7, 2010
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex IJessica Nouws, Leo Nijtmans, Sander M Houten, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Journal of Clinical Medicine|August 23, 2019
Identification and Characterization of New Variants in <i>FOXRED1</i> Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I DeficiencySofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, et al.
Pediatric Nephrology (Berlin, Germany)|September 3, 2024
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathyKyle Ying-Kit Lin, Ching-Wan Lam, Eugene Yu-Hin Chan, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defectsPaulien Smits, Sandy Mattijssen, Eva Morava, et al.
Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
European Journal of Medical Genetics|May 17, 2016
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13Tuva Barøy, Christeen Ramane J Pedurupillay, Yngve T Bliksrud, et al.
Biochimica Et Biophysica Acta. Bioenergetics|April 11, 2020
TMEM70 functions in the assembly of complexes I and VLaura Sánchez-Caballero, Dei M Elurbe, Fabian Baertling, et al.
Journal of Inherited Metabolic Disease|October 12, 2014
High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disordersSebastian Franik, Hidde H Huidekoper, Gepke Visser, et al.
Journal of Cellular and Molecular Medicine|December 2, 2017
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytesTova Hallas, Binyamin Eisen, Yuval Shemer, et al.
Molecular Genetics and Metabolism|November 25, 2018
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorderChristos Chinopoulos, Spyros Batzios, Lambertus P van den Heuvel, et al.
Cell Metabolism|September 7, 2010
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex IJessica Nouws, Leo Nijtmans, Sander M Houten, et al.
Pageof 4