E-LIB Suche - Ergebnisse für: Sasarman, Florin

1

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expandin..:

Sasarman, Florin ; Ferdinandusse, Sacha ; Sinasac, David S....
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 445-455 , 2022

Link: https://doi.org/10.1002/..

2

Adaptive optimization of the OXPHOS assembly line partially..:

Cuillerier, Alexanne ; Ruiz, Matthieu ; Daneault, Caroline...
Communications Biology. 4 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

3

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRN..:

Schwartzentruber, Jeremy ; Buhas, Daniela ; Majewski, Jacek...
Human Mutation. 36 (2015) 2 - p. 281-281 , 2015

Link: https://doi.org/10.1002/..

4

The 3′ addition of CCA to mitochondrial tRNASer(AGY) is spe..:

Sasarman, Florin ; Thiffault, Isabelle ; Weraarpachai, Woranontee...
Human Molecular Genetics. 24 (2015) 10 - p. 2841-2847 , 2015

Link: https://doi.org/10.1093/..

5

Mitochondrial Diseases and Cardiomyopathies:

Brunel-Guitton, Catherine ; Levtova, Alina ; Sasarman, Florin
Canadian Journal of Cardiology. 31 (2015) 11 - p. 1360-1376 , 2015

Link: https://doi.org/10.1016/..

6

Biosynthesis of glycosaminoglycans: associated disorders an..:

Sasarman, Florin ; Maftei, Catalina ; Campeau, Philippe M....
Journal of Inherited Metabolic Disease. 39 (2015) 2 - p. 173-188 , 2015

Link: https://doi.org/10.1007/..

7

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRN..:

Schwartzentruber, Jeremy ; Buhas, Daniela ; Majewski, Jacek...
Human Mutation. , 2014

Link: https://doi.org/10.1002/..

8

The arginine methyltransferase NDUFAF7 is essential for com..:

Zurita Rendón, Olga ; Silva Neiva, Lissiene ; Sasarman, Florin.
Human Molecular Genetics. 23 (2014) 19 - p. 5159-5170 , 2014

Link: https://doi.org/10.1093/..

9

Novel Mutations inSCO1as a Cause of Fatal Infantile Encepha..:

Leary, Scot C. ; Antonicka, Hana ; Sasarman, Florin...
Human Mutation. 34 (2013) 10 - p. 1366-1370 , 2013

Link: https://doi.org/10.1002/..

10

MITRAC Links Mitochondrial Protein Translocation to Respira..:

Mick, David U. ; Dennerlein, Sven ; Wiese, Heike...
Cell. 151 (2012) 7 - p. 1528-1541 , 2012

Link: https://doi.org/10.1016/..

11

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Ca..:

Bayat, Vafa ; Thiffault, Isabelle ; Jaiswal, Manish...
PLoS Biology. 10 (2012) 3 - p. e1001288 , 2012

Link: https://doi.org/10.1371/..

12

A novel mutation in YARS2 causes myopathy with lactic acido..:

Sasarman, Florin ; Nishimura, Tamiko ; Thiffault, Isabelle.
Human Mutation. 33 (2012) 8 - p. 1201-1206 , 2012

Link: https://doi.org/10.1002/..

13

Mutation in TACO1, encoding a translational activator of CO..:

Weraarpachai, Woranontee ; Antonicka, Hana ; Sasarman, Florin...
Nature Genetics. 41 (2009) 7 - p. 833-837 , 2009

Link: https://doi.org/10.1038/..

14

Human SCO2 is required for the synthesis of CO II and as a ..:

Leary, Scot C. ; Sasarman, Florin ; Nishimura, Tamiko.
Human Molecular Genetics. 18 (2009) 12 - p. 2230-2240 , 2009

Link: https://doi.org/10.1093/..

15

The P174L Mutation in Human Sco1 Severely Compromises Cox17..:

Cobine, Paul A. ; Pierrel, Fabien ; Leary, Scot C....
Journal of Biological Chemistry. 281 (2006) 18 - p. 12270-12276 , 2006

Link: https://doi.org/10.1074/..