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David R Thorburn

Showing results (91-100 of 166) with videos related to

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Human Molecular Genetics|July 11, 2015
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2David A Stroud, Megan J Maher, Caroline Lindau, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonismDanuta Z Loesch, David E Godler, Andrew Evans, et al.
Plos One|July 8, 2014
Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brainMatthew J Bird, Karina Needham, Ann E Frazier, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutationsHelen Swalwell, Denise M Kirby, Emma L Blakely, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
American Journal of Human Genetics|December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationFerence J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|November 26, 2013
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndromeTaro Yamazaki, Kei Murayama, Alison G Compton, et al.
Journal of the American Society of Nephrology : JASN|January 23, 2009
RAGE-induced cytosolic ROS promote mitochondrial superoxide generation in diabetesMelinda T Coughlan, David R Thorburn, Sally A Penfold, et al.
Pageof 17

Showing results (91-100 of 166) with videos related to

Sort By:
Pageof 17
Human Molecular Genetics|July 11, 2015
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2David A Stroud, Megan J Maher, Caroline Lindau, et al.
Haematologica|December 17, 2020
Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonismDanuta Z Loesch, David E Godler, Andrew Evans, et al.
Plos One|July 8, 2014
Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brainMatthew J Bird, Karina Needham, Ann E Frazier, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutationsHelen Swalwell, Denise M Kirby, Emma L Blakely, et al.
JIMD Reports|November 6, 2015
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureLisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, et al.
American Journal of Human Genetics|December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationFerence J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|November 26, 2013
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndromeTaro Yamazaki, Kei Murayama, Alison G Compton, et al.
Journal of the American Society of Nephrology : JASN|January 23, 2009
RAGE-induced cytosolic ROS promote mitochondrial superoxide generation in diabetesMelinda T Coughlan, David R Thorburn, Sally A Penfold, et al.
Pageof 17