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David R Thorburn

Showing results (41-50 of 173) with videos related to

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Journal of Molecular Biology|October 25, 2011
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1Matthew McKenzie, Elena J Tucker, Alison G Compton, et al.
JIMD Reports|November 7, 2022
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <i>CTBP1</i> variantWui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|November 5, 2013
Fumarase deficiency in dichorionic diamniotic twinsSimone Tregoning, Wendy Salter, David R Thorburn, et al.
European Journal of Pediatrics|June 19, 2008
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiencyKei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, et al.
Archives of Neurology|January 16, 2008
Juvenile Alpers diseaseEsko Wiltshire, Guido Davidzon, Salvatore DiMauro, et al.
European Journal of Human Genetics : EJHG|April 12, 2007
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European foundersAnna H Hakonen, Guido Davidzon, Renato Salemi, et al.
Plos One|June 9, 2017
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionMichael Nafisinia, Lisa G Riley, Wendy A Gold, et al.
Annals of Neurology|June 2, 2005
POLG mutations and Alpers syndromeGuido Davidzon, Michelangelo Mancuso, Silvio Ferraris, et al.
Bioscience Reports|October 15, 2014
Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouseMatthew J Bird, Xiaonan W Wijeyeratne, Jasper C Komen, et al.
JIMD Reports|February 23, 2013
Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patientsElisabeth De Greef, John Christodoulou, Ian E Alexander, et al.
Pageof 18

Showing results (41-50 of 173) with videos related to

Sort By:
Pageof 18
Journal of Molecular Biology|October 25, 2011
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1Matthew McKenzie, Elena J Tucker, Alison G Compton, et al.
JIMD Reports|November 7, 2022
Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo <i>CTBP1</i> variantWui-Kwan Wong, Shanti Balasubramaniam, Rachel S H Wong, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|November 5, 2013
Fumarase deficiency in dichorionic diamniotic twinsSimone Tregoning, Wendy Salter, David R Thorburn, et al.
European Journal of Pediatrics|June 19, 2008
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiencyKei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, et al.
Archives of Neurology|January 16, 2008
Juvenile Alpers diseaseEsko Wiltshire, Guido Davidzon, Salvatore DiMauro, et al.
European Journal of Human Genetics : EJHG|April 12, 2007
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European foundersAnna H Hakonen, Guido Davidzon, Renato Salemi, et al.
Plos One|June 9, 2017
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionMichael Nafisinia, Lisa G Riley, Wendy A Gold, et al.
Annals of Neurology|June 2, 2005
POLG mutations and Alpers syndromeGuido Davidzon, Michelangelo Mancuso, Silvio Ferraris, et al.
Bioscience Reports|October 15, 2014
Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouseMatthew J Bird, Xiaonan W Wijeyeratne, Jasper C Komen, et al.
JIMD Reports|February 23, 2013
Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patientsElisabeth De Greef, John Christodoulou, Ian E Alexander, et al.
Pageof 18