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Patrick F Chinnery

Showing results (361-370 of 473) with videos related to

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Neurology|May 7, 2013
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson diseaseGavin Hudson, Mike Nalls, Jonathan R Evans, et al.
Neurology|May 4, 2018
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutationBoglarka Bansagi, Vietxuan Phan, Mark R Baker, et al.
Molecular Cell|January 2, 2018
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNAThomas J Nicholls, Cristina A Nadalutti, Elisa Motori, et al.
Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.
Hepatology (Baltimore, Md.)|March 25, 2009
Locating the stem cell niche and tracing hepatocyte lineages in human liverTariq G Fellous, Shahriar Islam, Paul J Tadrous, et al.
Brain : a Journal of Neurology|July 27, 2011
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathyThomas Klopstock, Patrick Yu-Wai-Man, Konstantinos Dimitriadis, et al.
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Nature Communications|October 17, 2018
High prevalence of focal and multi-focal somatic genetic variants in the human brainMichael J Keogh, Wei Wei, Juvid Aryaman, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 15, 2018
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brainsMichael J Keogh, Wei Wei, Juvid Aryaman, 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.
Pageof 48

Showing results (361-370 of 473) with videos related to

Sort By:
Pageof 48
Neurology|May 7, 2013
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson diseaseGavin Hudson, Mike Nalls, Jonathan R Evans, et al.
Neurology|May 4, 2018
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo <i>PTEN</i> mutationBoglarka Bansagi, Vietxuan Phan, Mark R Baker, et al.
Molecular Cell|January 2, 2018
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNAThomas J Nicholls, Cristina A Nadalutti, Elisa Motori, et al.
Neurology|March 3, 2017
Genetic heterogeneity of motor neuropathiesBoglarka Bansagi, Helen Griffin, Roger G Whittaker, et al.
Hepatology (Baltimore, Md.)|March 25, 2009
Locating the stem cell niche and tracing hepatocyte lineages in human liverTariq G Fellous, Shahriar Islam, Paul J Tadrous, et al.
Brain : a Journal of Neurology|July 27, 2011
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathyThomas Klopstock, Patrick Yu-Wai-Man, Konstantinos Dimitriadis, et al.
Clinical Genetics|October 11, 2019
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenanceEwen W Sommerville, Ilaria Dalla Rosa, Masha M Rosenberg, et al.
Nature Communications|October 17, 2018
High prevalence of focal and multi-focal somatic genetic variants in the human brainMichael J Keogh, Wei Wei, Juvid Aryaman, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 15, 2018
Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brainsMichael J Keogh, Wei Wei, Juvid Aryaman, 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.
Pageof 48