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Patrick F Chinnery

Showing results (231-240 of 473) with videos related to

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Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Nature|October 5, 2022
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomesWei Wei, Katherine R Schon, Greg Elgar, et al.
Cerebellum & Ataxias|December 8, 2015
Mitochondrial pathology in progressive cerebellar ataxiaDavid Bargiela, Priya Shanmugarajah, Christine Lo, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|January 4, 2014
Titinopathy in a Canadian family sharing the British founder haplotypeGerald Pfeffer, Jeffrey T Joseph, A Micheil Innes, et al.
Brain : a Journal of Neurology|September 26, 2012
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBeril Talim, Angela Pyle, Helen Griffin, et al.
Annals of Clinical and Translational Neurology|April 2, 2024
7T MRI detects widespread brain iron deposition in neuroferritinopathyAlexander G Murley, Catarina Rua, Heather Biggs, et al.
Molecular Genetics and Metabolism|May 22, 2012
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletionStefanie Bulst, Elke Holinski-Feder, Brendan Payne, et al.
Circulation|December 2, 2025
Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart AssociationJessica L Fetterman, Patrick F Chinnery, Rebecca McClellan, et al.
Plos Genetics|January 6, 2023
A role for BCL2L13 and autophagy in germline purifying selection of mtDNALaura S Kremer, Lyuba V Bozhilova, Diana Rubalcava-Gracia, et al.
Annals of Clinical and Translational Neurology|August 2, 2024
Mitochondrial DNA disorders in neuromuscular diseases in diverse populationsFei Gao, Katherine R Schon, Jana Vandrovcova, et al.
Pageof 48

Showing results (231-240 of 473) with videos related to

Sort By:
Pageof 48
Journal of Neurology|July 14, 2020
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletionGrace McMacken, Hanns Lochmüller, Boglarka Bansagi, et al.
Nature|October 5, 2022
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomesWei Wei, Katherine R Schon, Greg Elgar, et al.
Cerebellum & Ataxias|December 8, 2015
Mitochondrial pathology in progressive cerebellar ataxiaDavid Bargiela, Priya Shanmugarajah, Christine Lo, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|January 4, 2014
Titinopathy in a Canadian family sharing the British founder haplotypeGerald Pfeffer, Jeffrey T Joseph, A Micheil Innes, et al.
Brain : a Journal of Neurology|September 26, 2012
Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutationBeril Talim, Angela Pyle, Helen Griffin, et al.
Annals of Clinical and Translational Neurology|April 2, 2024
7T MRI detects widespread brain iron deposition in neuroferritinopathyAlexander G Murley, Catarina Rua, Heather Biggs, et al.
Molecular Genetics and Metabolism|May 22, 2012
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletionStefanie Bulst, Elke Holinski-Feder, Brendan Payne, et al.
Circulation|December 2, 2025
Mitochondrial Genetics in Cardiovascular Health and Disease: A Scientific Statement From the American Heart AssociationJessica L Fetterman, Patrick F Chinnery, Rebecca McClellan, et al.
Plos Genetics|January 6, 2023
A role for BCL2L13 and autophagy in germline purifying selection of mtDNALaura S Kremer, Lyuba V Bozhilova, Diana Rubalcava-Gracia, et al.
Annals of Clinical and Translational Neurology|August 2, 2024
Mitochondrial DNA disorders in neuromuscular diseases in diverse populationsFei Gao, Katherine R Schon, Jana Vandrovcova, et al.
Pageof 48