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Florin Sasarman

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

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Human Molecular Genetics|April 26, 2015
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidaseReetta Hinttala, Florin Sasarman, Tamiko Nishimura, 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.
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.
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.
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.
Journal of Inherited Metabolic Disease|February 17, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS methodFlorin Sasarman, Sacha Ferdinandusse, David S Sinasac, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Plos Biology|March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansVafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
Pageof 3

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

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Human Molecular Genetics|April 26, 2015
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidaseReetta Hinttala, Florin Sasarman, Tamiko Nishimura, 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.
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.
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.
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.
Journal of Inherited Metabolic Disease|February 17, 2022
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS methodFlorin Sasarman, Sacha Ferdinandusse, David S Sinasac, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Plos Biology|March 27, 2012
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humansVafa Bayat, Isabelle Thiffault, Manish Jaiswal, et al.
Pageof 3