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Patrick F Chinnery

Showing results (281-290 of 473) with videos related to

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Mitochondrion|March 19, 2013
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTVivienne C M Neeve, Angela Pyle, Veronika Boczonadi, et al.
Investigative Ophthalmology & Visual Science|March 4, 2009
Quality of life in patients with leber hereditary optic neuropathyMatthew Anthony Kirkman, Alex Korsten, Miriam Leonhardt, et al.
Annals of Neurology|March 30, 2004
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutationRobert McFarland, Andrew M Schaefer, Julie L Gardner, et al.
Neurobiology of Aging|May 4, 2013
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very oldJoanna Collerton, Deepthi Ashok, Carmen Martin-Ruiz, et al.
Frontiers in Neurology|December 18, 2023
Case report: Mutations in <i>DNAJC30</i> causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individualsToby Charles Major, Eszter Sara Arany, Katherine Schon, et al.
Medrxiv : the Preprint Server for Health Sciences|January 30, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humansRahul Gupta, Masahiro Kanai, Timothy J Durham, et al.
Nature Reviews. Drug Discovery|December 8, 2021
Choosing drugs for UK COVID-19 treatment trialsPatrick F Chinnery, Marion Bonnet, Alison Cave, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
The Journal of Allergy and Clinical Immunology|June 21, 2017
Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γJohn D Widdrington, Aurora Gomez-Duran, Jannetta S Steyn, et al.
American Journal of Human Genetics|May 11, 2006
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaMatthew J Longley, Susanna Clark, Cynthia Yu Wai Man, et al.
Pageof 48

Showing results (281-290 of 473) with videos related to

Sort By:
Pageof 48
Mitochondrion|March 19, 2013
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTVivienne C M Neeve, Angela Pyle, Veronika Boczonadi, et al.
Investigative Ophthalmology & Visual Science|March 4, 2009
Quality of life in patients with leber hereditary optic neuropathyMatthew Anthony Kirkman, Alex Korsten, Miriam Leonhardt, et al.
Annals of Neurology|March 30, 2004
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutationRobert McFarland, Andrew M Schaefer, Julie L Gardner, et al.
Neurobiology of Aging|May 4, 2013
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very oldJoanna Collerton, Deepthi Ashok, Carmen Martin-Ruiz, et al.
Frontiers in Neurology|December 18, 2023
Case report: Mutations in <i>DNAJC30</i> causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individualsToby Charles Major, Eszter Sara Arany, Katherine Schon, et al.
Medrxiv : the Preprint Server for Health Sciences|January 30, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humansRahul Gupta, Masahiro Kanai, Timothy J Durham, et al.
Nature Reviews. Drug Discovery|December 8, 2021
Choosing drugs for UK COVID-19 treatment trialsPatrick F Chinnery, Marion Bonnet, Alison Cave, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
The Journal of Allergy and Clinical Immunology|June 21, 2017
Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γJohn D Widdrington, Aurora Gomez-Duran, Jannetta S Steyn, et al.
American Journal of Human Genetics|May 11, 2006
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegiaMatthew J Longley, Susanna Clark, Cynthia Yu Wai Man, et al.
Pageof 48