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Eric A Shoubridge

Showing results (81-90 of 99) with videos related to

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Human Molecular Genetics|June 3, 2017
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusionAlexanne Cuillerier, Shamisa Honarmand, Virgilio J J Cadete, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
EMBO Molecular Medicine|July 9, 2016
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndromeAlexandre Janer, Julien Prudent, Vincent Paupe, et al.
American Journal of Human Genetics|July 6, 2010
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectHana Antonicka, Elsebet Ostergaard, Florin Sasarman, et al.
Human Molecular Genetics|September 28, 2014
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-SaguenayRoxanne Larivière, Rébecca Gaudet, Benoit J Gentil, et al.
European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
The New England Journal of Medicine|November 13, 2004
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiencyMarieke J H Coenen, Hana Antonicka, Cristina Ugalde, et al.
American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 7, 2012
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Martine Girard, Roxanne Larivière, David A Parfitt, et al.
Pageof 10

Showing results (81-90 of 99) with videos related to

Sort By:
Pageof 10
Human Molecular Genetics|June 3, 2017
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusionAlexanne Cuillerier, Shamisa Honarmand, Virgilio J J Cadete, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Human Molecular Genetics|February 6, 2015
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, et al.
EMBO Molecular Medicine|July 9, 2016
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndromeAlexandre Janer, Julien Prudent, Vincent Paupe, et al.
American Journal of Human Genetics|July 6, 2010
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectHana Antonicka, Elsebet Ostergaard, Florin Sasarman, et al.
Human Molecular Genetics|September 28, 2014
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-SaguenayRoxanne Larivière, Rébecca Gaudet, Benoit J Gentil, et al.
European Journal of Human Genetics : EJHG|January 22, 2015
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementAlexandre Janer, Clara Dm van Karnebeek, Florin Sasarman, et al.
The New England Journal of Medicine|November 13, 2004
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiencyMarieke J H Coenen, Hana Antonicka, Cristina Ugalde, et al.
American Journal of Human Genetics|October 13, 2006
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsJan A M Smeitink, Orly Elpeleg, Hana Antonicka, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 7, 2012
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)Martine Girard, Roxanne Larivière, David A Parfitt, et al.
Pageof 10