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AIDS Research and Human Retroviruses
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December 15, 2010
Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children
Susan B Brogly, Salvatore DiMauro, Russell B Van Dyke, et al.
Molecular Genetics and Metabolism
|
March 20, 2016
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency
Roa Sadat, Emanuele Barca, Ruchi Masand, et al.
European Journal of Medical Genetics
|
August 29, 2024
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy
Nan Jiang, Wenyuan Xu, Aliaa Abdelhakim, et al.
The Journal of Clinical Investigation
|
September 17, 2003
D-beta-hydroxybutyrate rescues mitochondrial respiration and mitigates features of Parkinson disease
Kim Tieu, Celine Perier, Casper Caspersen, et al.
The Journal of Biological Chemistry
|
December 26, 2001
Altered thymidine metabolism due to defects of thymidine phosphorylase
Antonella Spinazzola, Ramon Marti, Ichizo Nishino, et al.
Archives of Neurology
|
April 12, 2012
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
Valentina Emmanuele, Luis C López, Luis López, et al.
Neuromuscular Disorders : NMD
|
May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene
Belén Bornstein, Estela Area, Kevin M Flanigan, et al.
Archives of Neurology
|
February 10, 2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
Bulent Kurt, Jaak Jaeken, Johan Van Hove, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Brain : a Journal of Neurology
|
April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloglu, Beril Talim, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 52) with videos related to
Sort By:
Page
of 6
AIDS Research and Human Retroviruses
|
December 15, 2010
Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children
Susan B Brogly, Salvatore DiMauro, Russell B Van Dyke, et al.
Molecular Genetics and Metabolism
|
March 20, 2016
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency
Roa Sadat, Emanuele Barca, Ruchi Masand, et al.
European Journal of Medical Genetics
|
August 29, 2024
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy
Nan Jiang, Wenyuan Xu, Aliaa Abdelhakim, et al.
The Journal of Clinical Investigation
|
September 17, 2003
D-beta-hydroxybutyrate rescues mitochondrial respiration and mitigates features of Parkinson disease
Kim Tieu, Celine Perier, Casper Caspersen, et al.
The Journal of Biological Chemistry
|
December 26, 2001
Altered thymidine metabolism due to defects of thymidine phosphorylase
Antonella Spinazzola, Ramon Marti, Ichizo Nishino, et al.
Archives of Neurology
|
April 12, 2012
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review
Valentina Emmanuele, Luis C López, Luis López, et al.
Neuromuscular Disorders : NMD
|
May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene
Belén Bornstein, Estela Area, Kevin M Flanigan, et al.
Archives of Neurology
|
February 10, 2010
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
Bulent Kurt, Jaak Jaeken, Johan Van Hove, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Brain : a Journal of Neurology
|
April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel, Haluk Topaloglu, Beril Talim, et al.
Page
of 6