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David R Thorburn

Showing results (31-40 of 173) with videos related to

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International Journal of Molecular Sciences|July 24, 2021
Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?Cameron L McKnight, Yau Chung Low, David A Elliott, et al.
Methods in Cell Biology|March 19, 2020
Assessment of mitochondrial respiratory chain enzymes in cells and tissuesAnn E Frazier, Amy E Vincent, Doug M Turnbull, et al.
Pediatric Neurology|May 20, 2008
Ophthalmologic presentation of oxidative phosphorylation diseases of childhoodLoreto V T Rose, Nectarios T Rose, James E Elder, et al.
Journal of Inherited Metabolic Disease|July 27, 2025
Therapies for Mitochondrial Disease: Past, Present, and FutureMegan Ball, Nicole J van Bergen, Alison G Compton, et al.
Human Mutation|November 11, 2011
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretationElena J Tucker, Masakazu Mimaki, Alison G Compton, et al.
Pediatrics|November 4, 2008
Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnosesKate Gibson, Jane L Halliday, Denise M Kirby, et al.
Mitochondrion|August 27, 2005
Flow cytometry in the study of mitochondrial respiratory chain disordersKaren Setterfield, Andrew J Williams, Jennifer Donald, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Biochemical and molecular diagnosis of mitochondrial respiratory chain disordersDavid R Thorburn, Canny Sugiana, Renato Salemi, et al.
Archives of Neurology|May 11, 2005
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeMichelangelo Mancuso, Silvio Ferraris, Jacklyn Pancrudo, et al.
Annals of Neurology|October 2, 2003
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's diseaseDenise M Kirby, Avihu Boneh, C W Chow, et al.
Pageof 18

Showing results (31-40 of 173) with videos related to

Sort By:
Pageof 18
International Journal of Molecular Sciences|July 24, 2021
Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?Cameron L McKnight, Yau Chung Low, David A Elliott, et al.
Methods in Cell Biology|March 19, 2020
Assessment of mitochondrial respiratory chain enzymes in cells and tissuesAnn E Frazier, Amy E Vincent, Doug M Turnbull, et al.
Pediatric Neurology|May 20, 2008
Ophthalmologic presentation of oxidative phosphorylation diseases of childhoodLoreto V T Rose, Nectarios T Rose, James E Elder, et al.
Journal of Inherited Metabolic Disease|July 27, 2025
Therapies for Mitochondrial Disease: Past, Present, and FutureMegan Ball, Nicole J van Bergen, Alison G Compton, et al.
Human Mutation|November 11, 2011
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretationElena J Tucker, Masakazu Mimaki, Alison G Compton, et al.
Pediatrics|November 4, 2008
Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnosesKate Gibson, Jane L Halliday, Denise M Kirby, et al.
Mitochondrion|August 27, 2005
Flow cytometry in the study of mitochondrial respiratory chain disordersKaren Setterfield, Andrew J Williams, Jennifer Donald, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Biochemical and molecular diagnosis of mitochondrial respiratory chain disordersDavid R Thorburn, Canny Sugiana, Renato Salemi, et al.
Archives of Neurology|May 11, 2005
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndromeMichelangelo Mancuso, Silvio Ferraris, Jacklyn Pancrudo, et al.
Annals of Neurology|October 2, 2003
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's diseaseDenise M Kirby, Avihu Boneh, C W Chow, et al.
Pageof 18