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David R Thorburn

Showing results (81-90 of 173) with videos related to

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Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Cell Metabolism|April 12, 2015
IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteinsNing Dai, Liping Zhao, Diedra Wrighting, et al.
Molecular Cell|July 18, 2017
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import ComplexYilin Kang, David A Stroud, Michael J Baker, et al.
JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.
Stem Cells and Development|November 27, 2015
Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular DifferentiationJacqueline Johnson, William Lee, Ann E Frazier, et al.
The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|June 1, 2004
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic miceJoseph P Sarsero, Lingli Li, Timothy P Holloway, et al.
Antioxidants & Redox Signaling|January 17, 2013
Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal diseaseJosephine M Forbes, Bi-Xia Ke, Tuong-Vi Nguyen, et al.
Nature|September 15, 2016
Accessory subunits are integral for assembly and function of human mitochondrial complex IDavid A Stroud, Elliot E Surgenor, Luke E Formosa, et al.
Pageof 18

Showing results (81-90 of 173) with videos related to

Sort By:
Pageof 18
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Cell Metabolism|April 12, 2015
IGF2BP2/IMP2-Deficient mice resist obesity through enhanced translation of Ucp1 mRNA and Other mRNAs encoding mitochondrial proteinsNing Dai, Liping Zhao, Diedra Wrighting, et al.
Molecular Cell|July 18, 2017
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import ComplexYilin Kang, David A Stroud, Michael J Baker, et al.
JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
Mitochondrion|August 1, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseManoj P Menezes, Shamima Rahman, Kaustuv Bhattacharya, et al.
Stem Cells and Development|November 27, 2015
Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular DifferentiationJacqueline Johnson, William Lee, Ann E Frazier, et al.
The Journal of Clinical Investigation|September 17, 2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyDenise M Kirby, Renato Salemi, Canny Sugiana, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|June 1, 2004
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic miceJoseph P Sarsero, Lingli Li, Timothy P Holloway, et al.
Antioxidants & Redox Signaling|January 17, 2013
Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal diseaseJosephine M Forbes, Bi-Xia Ke, Tuong-Vi Nguyen, et al.
Nature|September 15, 2016
Accessory subunits are integral for assembly and function of human mitochondrial complex IDavid A Stroud, Elliot E Surgenor, Luke E Formosa, et al.
Pageof 18