Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

David R Thorburn

Showing results (121-130 of 166) with videos related to

Pageof 17
Sort By:
Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.
Cell Metabolism|September 13, 2011
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationElena J Tucker, Steven G Hershman, Caroline Köhrer, et al.
Nature Genetics|September 7, 2010
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencySarah E Calvo, Elena J Tucker, Alison G Compton, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
American Journal of Human Genetics|January 28, 2014
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeSze Chern Lim, Katherine R Smith, David A Stroud, et al.
Lancet (London, England)|August 18, 2004
Risk of developing a mitochondrial DNA deletion disorderPatrick F Chinnery, Salvatore DiMauro, Sara Shanske, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
Cell Death and Differentiation|October 21, 2017
Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in miceJibran A Wali, Sandra Galic, Christina Yr Tan, et al.
Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Pageof 17

Showing results (121-130 of 166) with videos related to

Sort By:
Pageof 17
Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.
Cell Metabolism|September 13, 2011
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationElena J Tucker, Steven G Hershman, Caroline Köhrer, et al.
Nature Genetics|September 7, 2010
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencySarah E Calvo, Elena J Tucker, Alison G Compton, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
American Journal of Human Genetics|January 28, 2014
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeSze Chern Lim, Katherine R Smith, David A Stroud, et al.
Lancet (London, England)|August 18, 2004
Risk of developing a mitochondrial DNA deletion disorderPatrick F Chinnery, Salvatore DiMauro, Sara Shanske, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
Cell Death and Differentiation|October 21, 2017
Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in miceJibran A Wali, Sandra Galic, Christina Yr Tan, et al.
Orphanet Journal of Rare Diseases|July 9, 2013
SURF1 deficiency: a multi-centre natural history studyYehani Wedatilake, Ruth M Brown, Robert McFarland, et al.
Pageof 17