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Sarah E Calvo

Showing results (21-30 of 47) with videos related to

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Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Nature|August 16, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humansRahul Gupta, Masahiro Kanai, Timothy J Durham, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2018
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytomaRaj K Gopal, Sarah E Calvo, Angela R Shih, et al.
Science (New York, N.Y.)|November 16, 2013
EMRE is an essential component of the mitochondrial calcium uniporter complexYasemin Sancak, Andrew L Markhard, Toshimori Kitami, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Cell|April 30, 2019
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster BiogenesisTslil Ast, Joshua D Meisel, Shachin Patra, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Genome Research|January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomADKristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Neurology|April 19, 2013
Targeted exome sequencing of suspected mitochondrial disordersDaniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
Human Mutation|April 14, 2019
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variantNicole J Lake, Luke E Formosa, David A Stroud, et al.
Human Molecular Genetics|September 23, 2010
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyElisa Fassone, Andrew J Duncan, Jan-Willem Taanman, et al.
Nature|August 16, 2023
Nuclear genetic control of mtDNA copy number and heteroplasmy in humansRahul Gupta, Masahiro Kanai, Timothy J Durham, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 20, 2018
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytomaRaj K Gopal, Sarah E Calvo, Angela R Shih, et al.
Science (New York, N.Y.)|November 16, 2013
EMRE is an essential component of the mitochondrial calcium uniporter complexYasemin Sancak, Andrew L Markhard, Toshimori Kitami, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Cell|April 30, 2019
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster BiogenesisTslil Ast, Joshua D Meisel, Shachin Patra, et al.
Brain : a Journal of Neurology|October 9, 2012
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsDario Ronchi, Caterina Garone, Andreina Bordoni, et al.
Genome Research|January 25, 2022
Mitochondrial DNA variation across 56,434 individuals in gnomADKristen M Laricchia, Nicole J Lake, Nicholas A Watts, et al.
Neurology|April 19, 2013
Targeted exome sequencing of suspected mitochondrial disordersDaniel S Lieber, Sarah E Calvo, Kristy Shanahan, et al.
Pageof 5