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David R Thorburn

Showing results (111-120 of 166) with videos related to

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Elife|November 5, 2019
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndromeYilin Kang, Alexander J Anderson, Thomas Daniel Jackson, et al.
Nature Communications|December 4, 2021
High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain contentCesare Granata, Nikeisha J Caruana, Javier Botella, et al.
Science Translational Medicine|January 27, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingSarah E Calvo, Alison G Compton, Steven G Hershman, et al.
Cell|July 11, 2008
A mitochondrial protein compendium elucidates complex I disease biologyDavid J Pagliarini, Sarah E Calvo, Betty Chang, et al.
Plos Genetics|January 14, 2016
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaIlaria Dalla Rosa, Yolanda Cámara, Romina Durigon, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.
American Journal of Human Genetics|October 23, 2008
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseCanny Sugiana, David J Pagliarini, Matthew McKenzie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Pageof 17

Showing results (111-120 of 166) with videos related to

Sort By:
Pageof 17
Elife|November 5, 2019
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndromeYilin Kang, Alexander J Anderson, Thomas Daniel Jackson, et al.
Nature Communications|December 4, 2021
High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain contentCesare Granata, Nikeisha J Caruana, Javier Botella, et al.
Science Translational Medicine|January 27, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingSarah E Calvo, Alison G Compton, Steven G Hershman, et al.
Cell|July 11, 2008
A mitochondrial protein compendium elucidates complex I disease biologyDavid J Pagliarini, Sarah E Calvo, Betty Chang, et al.
Plos Genetics|January 14, 2016
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in MitochondriaIlaria Dalla Rosa, Yolanda Cámara, Romina Durigon, et al.
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, et al.
JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.
American Journal of Human Genetics|October 23, 2008
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseCanny Sugiana, David J Pagliarini, Matthew McKenzie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Pageof 17