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Science Translational Medicine
|
January 27, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Sarah E Calvo, Alison G Compton, Steven G Hershman, et al.
Cell
|
July 11, 2008
A mitochondrial protein compendium elucidates complex I disease biology
David J Pagliarini, Sarah E Calvo, Betty Chang, et al.
Cell Metabolism
|
September 13, 2011
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
Elena 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 deficiency
Sarah E Calvo, Elena J Tucker, Alison G Compton, et al.
Human Molecular Genetics
|
May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Cell Metabolism
|
December 15, 2023
ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits
Charandeep Singh, Byungchang Jin, Nirajan Shrestha, et al.
Cancer Discovery
|
June 1, 2023
Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma
Raj K Gopal, Venkata R Vantaku, Apekshya Panda, et al.
Nature Genetics
|
January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Cornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.
American Journal of Human Genetics
|
October 15, 2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4
Gordon J Hildick-Smith, Jeffrey D Cooney, Caterina Garone, et al.
Cancer Cell
|
August 15, 2018
Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma
Raj K Gopal, Kirsten Kübler, Sarah E Calvo, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
Science Translational Medicine
|
January 27, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
Sarah E Calvo, Alison G Compton, Steven G Hershman, et al.
Cell
|
July 11, 2008
A mitochondrial protein compendium elucidates complex I disease biology
David J Pagliarini, Sarah E Calvo, Betty Chang, et al.
Cell Metabolism
|
September 13, 2011
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
Elena 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 deficiency
Sarah E Calvo, Elena J Tucker, Alison G Compton, et al.
Human Molecular Genetics
|
May 3, 2023
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
Sumudu S C Amarasekera, Daniella H Hock, Nicole J Lake, et al.
Cell Metabolism
|
December 15, 2023
ChREBP is activated by reductive stress and mediates GCKR-associated metabolic traits
Charandeep Singh, Byungchang Jin, Nirajan Shrestha, et al.
Cancer Discovery
|
June 1, 2023
Effectors Enabling Adaptation to Mitochondrial Complex I Loss in Hürthle Cell Carcinoma
Raj K Gopal, Venkata R Vantaku, Apekshya Panda, et al.
Nature Genetics
|
January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
Cornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.
American Journal of Human Genetics
|
October 15, 2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4
Gordon J Hildick-Smith, Jeffrey D Cooney, Caterina Garone, et al.
Cancer Cell
|
August 15, 2018
Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma
Raj K Gopal, Kirsten Kübler, Sarah E Calvo, et al.
Page
of 5