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Angela Pyle

Showing results (81-90 of 119) with videos related to

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American Journal of Human Genetics|May 3, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.
American Journal of Human Genetics|July 9, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.
Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.
EMBO Molecular Medicine|February 29, 2020
Metabolic effects of bezafibrate in mitochondrial diseaseHannah Steele, Aurora Gomez-Duran, Angela Pyle, et al.
Plos Genetics|April 1, 2022
Heteroplasmic mitochondrial DNA variants in cardiovascular diseasesClaudia Calabrese, Angela Pyle, Helen Griffin, et al.
Plos One|December 29, 2012
Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cellsAnton K Raap, Roshan S Jahangir Tafrechi, Frans M van de Rijke, et al.
Human Mutation|March 9, 2007
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole causeChristian Beetz, Stephan Zuchner, Allison Ashley-Koch, et al.
Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.
Pageof 12

Showing results (81-90 of 119) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|May 3, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 1, 2011
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3Rita Horvath, Birgit Czermin, Sweena Gulati, et al.
American Journal of Human Genetics|July 9, 2016
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain DeficienciesMetodi D Metodiev, Kyle Thompson, Charlotte L Alston, et al.
Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.
Human Molecular Genetics|January 13, 2022
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial diseaseFlorian A Rosenberger, Jia Xin Tang, Kate Sergeant, et al.
EMBO Molecular Medicine|February 29, 2020
Metabolic effects of bezafibrate in mitochondrial diseaseHannah Steele, Aurora Gomez-Duran, Angela Pyle, et al.
Plos Genetics|April 1, 2022
Heteroplasmic mitochondrial DNA variants in cardiovascular diseasesClaudia Calabrese, Angela Pyle, Helen Griffin, et al.
Plos One|December 29, 2012
Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cellsAnton K Raap, Roshan S Jahangir Tafrechi, Frans M van de Rijke, et al.
Human Mutation|March 9, 2007
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole causeChristian Beetz, Stephan Zuchner, Allison Ashley-Koch, et al.
Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.
Pageof 12