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Brian H Robinson

Showing results (41-50 of 57) with videos related to

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Human Mutation|February 16, 2005
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiencyMarie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, et al.
Molecular Genetics and Metabolism|December 26, 2012
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutationsKomudi Siriwardena, Nevena Mackay, Valeriy Levandovskiy, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activityJessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, et al.
American Journal of Human Genetics|September 28, 2011
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymesJessie M Cameron, Alexandre Janer, Valeriy Levandovskiy, et al.
American Journal of Medical Genetics. Part A|September 7, 2006
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafnessAnnette Feigenbaum, Ren-Kui Bai, Emily S Doherty, et al.
Biochemical and Biophysical Research Communications|July 20, 2010
Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cellsMary C Maj, Ilona Tkachyova, Pratik Patel, et al.
Inorganic Chemistry|October 24, 2001
An EPR Study of 2,3-Bis(diphenylphosphino)maleic Anhydride (BMA) Complexes and the BMA Radical AnionNoel W. Duffy, Ross R. Nelson, Michael G. Richmond, et al.
Mitochondrion|November 6, 2010
Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblastsMary Maj, Niroshan Sriskandarajah, Vinci Hung, et al.
Mitochondrion|October 2, 2012
Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseasesPeter W Stacpoole, Ton J deGrauw, Annette S Feigenbaum, et al.
Molecular and Cellular Biology|January 1, 2004
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaDavid S Sinasac, Mitsuaki Moriyama, M Abdul Jalil, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Human Mutation|February 16, 2005
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiencyMarie-Hélène Odièvre, Dominique Chretien, Arnold Munnich, et al.
Molecular Genetics and Metabolism|December 26, 2012
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutationsKomudi Siriwardena, Nevena Mackay, Valeriy Levandovskiy, et al.
American Journal of Medical Genetics. Part A|June 14, 2006
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activityJessie M Cameron, Valeriy Levandovskiy, Neviana Mackay, et al.
American Journal of Human Genetics|September 28, 2011
Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymesJessie M Cameron, Alexandre Janer, Valeriy Levandovskiy, et al.
American Journal of Medical Genetics. Part A|September 7, 2006
Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafnessAnnette Feigenbaum, Ren-Kui Bai, Emily S Doherty, et al.
Biochemical and Biophysical Research Communications|July 20, 2010
Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cellsMary C Maj, Ilona Tkachyova, Pratik Patel, et al.
Inorganic Chemistry|October 24, 2001
An EPR Study of 2,3-Bis(diphenylphosphino)maleic Anhydride (BMA) Complexes and the BMA Radical AnionNoel W. Duffy, Ross R. Nelson, Michael G. Richmond, et al.
Mitochondrion|November 6, 2010
Identification of drug candidates which increase cytochrome c oxidase activity in deficient patient fibroblastsMary Maj, Niroshan Sriskandarajah, Vinci Hung, et al.
Mitochondrion|October 2, 2012
Design and implementation of the first randomized controlled trial of coenzyme CoQ₁₀ in children with primary mitochondrial diseasesPeter W Stacpoole, Ton J deGrauw, Annette S Feigenbaum, et al.
Molecular and Cellular Biology|January 1, 2004
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaDavid S Sinasac, Mitsuaki Moriyama, M Abdul Jalil, et al.
Pageof 6