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Christopher A Powell

Showing results (21-30 of 33) with videos related to

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Human Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.
Journal of Medical Genetics|March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorderCurtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.
Nature Medicine|September 26, 2018
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivoPayam A Gammage, Carlo Viscomi, Marie-Lune Simard, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
Cell|February 24, 2023
Cell lineage-specific mitochondrial resilience during mammalian organogenesisStephen P Burr, Florian Klimm, Angelos Glynos, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
EMBO Molecular Medicine|November 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial diseaseLindsey Van Haute, Petra Páleníková, Jia Xin Tang, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Human Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.
Journal of Medical Genetics|March 20, 2015
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorderCurtis R Coughlin, Gunter H Scharer, Marisa W Friederich, et al.
Nature Medicine|September 26, 2018
Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivoPayam A Gammage, Carlo Viscomi, Marie-Lune Simard, et al.
Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.
Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
Cell|February 24, 2023
Cell lineage-specific mitochondrial resilience during mammalian organogenesisStephen P Burr, Florian Klimm, Angelos Glynos, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
EMBO Molecular Medicine|November 20, 2024
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial diseaseLindsey Van Haute, Petra Páleníková, Jia Xin Tang, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
Human Mutation|May 3, 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processingMakenzie Saoura, Christopher A Powell, Robert Kopajtich, et al.
Pageof 4