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Patrick F Chinnery

Showing results (321-330 of 473) with videos related to

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Neurogenetics|November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismMichael J Keogh, D Daud, A Pyle, et al.
Cell|June 8, 2024
MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levelsLuis Carlos Tábara, Stephen P Burr, Michele Frison, et al.
Developmental Cell|May 13, 2026
Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivoRajini Chandrasegaram, Sara Gottardo, Abhilesh Dhawanjewar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variantsThiloka Ratnaike, Siddharth Ramanan, Nour Elkhateeb, et al.
Brain : a Journal of Neurology|March 27, 2016
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunctionPeter J Kullar, Jenna Quail, Phillip Lindsey, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
JAMA Neurology|March 5, 2014
Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility studyGraham S Jackson, Jesse Burk-Rafel, Julie Ann Edgeworth, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Nature|April 16, 2010
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseLyndsey Craven, Helen A Tuppen, Gareth D Greggains, et al.
Pageof 48

Showing results (321-330 of 473) with videos related to

Sort By:
Pageof 48
Neurogenetics|November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonismMichael J Keogh, D Daud, A Pyle, et al.
Cell|June 8, 2024
MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levelsLuis Carlos Tábara, Stephen P Burr, Michele Frison, et al.
Developmental Cell|May 13, 2026
Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivoRajini Chandrasegaram, Sara Gottardo, Abhilesh Dhawanjewar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 1, 2026
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variantsThiloka Ratnaike, Siddharth Ramanan, Nour Elkhateeb, et al.
Brain : a Journal of Neurology|March 27, 2016
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunctionPeter J Kullar, Jenna Quail, Phillip Lindsey, et al.
Human Molecular Genetics|August 23, 2019
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial diseaseMonika Oláhová, Camilla Ceccatelli Berti, Jack J Collier, et al.
JAMA Neurology|March 5, 2014
Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility studyGraham S Jackson, Jesse Burk-Rafel, Julie Ann Edgeworth, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Nature Communications|April 10, 2020
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humansWei Wei, Alistair T Pagnamenta, Nicholas Gleadall, et al.
Nature|April 16, 2010
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseLyndsey Craven, Helen A Tuppen, Gareth D Greggains, et al.
Pageof 48