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Brian H Robinson

Showing results (31-40 of 57) with videos related to

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American Journal of Medical Genetics. Part A|March 14, 2007
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNAAvril E Castagna, Jane Addis, Roderick R McInnes, et al.
Biochemical and Biophysical Research Communications|October 23, 2010
MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutationBarbara S Connolly, Annette S J Feigenbaum, Brian H Robinson, et al.
Molecular Genetics and Metabolism|August 25, 2009
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblastsJessie M Cameron, Valeriy Levandovskiy, Nevena MacKay, et al.
European Journal of Pediatrics|March 23, 2006
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiencyFrancois-G Debray, Marie Lambert, Michel Vanasse, et al.
Pediatrics|April 4, 2007
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesFrançois-Guillaume Debray, Marie Lambert, Isabelle Chevalier, et al.
Ecology and Evolution|September 16, 2024
Latitudinal gradients and sex differences in morphology of the Black Oystercatcher (<i>Haematopus bachmani</i>)Hannah Roodenrijs, Lena Ware, Cole Rankin, et al.
The Journal of Clinical Endocrinology and Metabolism|April 28, 2005
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementationMary C Maj, Neviana MacKay, Valeriy Levandovskiy, et al.
Mitochondrion|October 6, 2010
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganizationJessie M Cameron, Valeriy Levandovskiy, Nevena Mackay, et al.
The Journal of Pediatrics|January 10, 2003
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trialJean-Michel Liet, Véronique Pelletier, Brian H Robinson, et al.
The Biochemical Journal|August 30, 2008
Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondriaFenghao Xu, Cameron Ackerley, Mary C Maj, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|March 14, 2007
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNAAvril E Castagna, Jane Addis, Roderick R McInnes, et al.
Biochemical and Biophysical Research Communications|October 23, 2010
MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutationBarbara S Connolly, Annette S J Feigenbaum, Brian H Robinson, et al.
Molecular Genetics and Metabolism|August 25, 2009
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblastsJessie M Cameron, Valeriy Levandovskiy, Nevena MacKay, et al.
European Journal of Pediatrics|March 23, 2006
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiencyFrancois-G Debray, Marie Lambert, Michel Vanasse, et al.
Pediatrics|April 4, 2007
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesFrançois-Guillaume Debray, Marie Lambert, Isabelle Chevalier, et al.
Ecology and Evolution|September 16, 2024
Latitudinal gradients and sex differences in morphology of the Black Oystercatcher (<i>Haematopus bachmani</i>)Hannah Roodenrijs, Lena Ware, Cole Rankin, et al.
The Journal of Clinical Endocrinology and Metabolism|April 28, 2005
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementationMary C Maj, Neviana MacKay, Valeriy Levandovskiy, et al.
Mitochondrion|October 6, 2010
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganizationJessie M Cameron, Valeriy Levandovskiy, Nevena Mackay, et al.
The Journal of Pediatrics|January 10, 2003
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trialJean-Michel Liet, Véronique Pelletier, Brian H Robinson, et al.
The Biochemical Journal|August 30, 2008
Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondriaFenghao Xu, Cameron Ackerley, Mary C Maj, et al.
Pageof 6