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David R Thorburn

Showing results (101-110 of 166) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|April 5, 2012
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyBi-Xia Ke, Salvatore Pepe, David R Grubb, et al.
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, et al.
Science Advances|August 15, 2025
Complex II assembly drives metabolic adaptation to OXPHOS dysfunctionRoopasingam Kugapreethan, Sheik Nadeem Elahee Doomun, Joanna Sacharz, et al.
Clinical Science (London, England : 1979)|February 3, 2016
Mapping time-course mitochondrial adaptations in the kidney in experimental diabetesMelinda T Coughlan, Tuong-Vi Nguyen, Sally A Penfold, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 25, 2022
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 moduleThomas D Jackson, Jordan J Crameri, Linden Muellner-Wong, et al.
Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Neurology|April 19, 2013
Targeted exome sequencing of suspected mitochondrial disordersDaniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Human Mutation|August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathyRocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Nature|October 16, 2024
Quantifying constraint in the human mitochondrial genomeNicole J Lake, Kaiyue Ma, Wei Liu, et al.
Pageof 17

Showing results (101-110 of 166) with videos related to

Sort By:
Pageof 17
Proceedings of the National Academy of Sciences of the United States of America|April 5, 2012
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathyBi-Xia Ke, Salvatore Pepe, David R Grubb, et al.
Human Mutation|May 15, 2012
Toward a mtDNA locus-specific mutation database using the LOVD platformJoanna L Elson, Mary G Sweeney, Vincent Procaccio, et al.
Science Advances|August 15, 2025
Complex II assembly drives metabolic adaptation to OXPHOS dysfunctionRoopasingam Kugapreethan, Sheik Nadeem Elahee Doomun, Joanna Sacharz, et al.
Clinical Science (London, England : 1979)|February 3, 2016
Mapping time-course mitochondrial adaptations in the kidney in experimental diabetesMelinda T Coughlan, Tuong-Vi Nguyen, Sally A Penfold, et al.
Human Mutation|November 10, 2020
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10Guy Helman, Alison G Compton, Daniella H Hock, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 25, 2022
Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 moduleThomas D Jackson, Jordan J Crameri, Linden Muellner-Wong, et al.
Human Molecular Genetics|July 2, 2013
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesSze Chern Lim, Martin Friemel, Justine E Marum, et al.
Neurology|April 19, 2013
Targeted exome sequencing of suspected mitochondrial disordersDaniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Human Mutation|August 28, 2022
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathyRocio Rius, Neal K Bennett, Kaustuv Bhattacharya, et al.
Nature|October 16, 2024
Quantifying constraint in the human mitochondrial genomeNicole J Lake, Kaiyue Ma, Wei Liu, et al.
Pageof 17