E-LIB Suche - Ergebnisse für: Nijtmans, Leo

1

Unraveling the complexity of mitochondrial complex I assemb..:

Sánchez-Caballero, Laura ; Guerrero-Castillo, Sergio ; Nijtmans, Leo
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1857 (2016) 7 - p. 980-990 , 2016

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

2

Disrupting Mitochondrial–Nuclear Coevolution Affects OXPHOS..:

Gershoni, Moran ; Levin, Liron ; Ovadia, Ofer...
Genome Biology and Evolution. 6 (2014) 10 - p. 2665-2680 , 2014

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

3

Genotype–phenotype spectrum of PYCR1-related autosomal rece..:

Dimopoulou, Aikaterini ; Fischer, Björn ; Gardeitchik, Thatjana...
Molecular Genetics and Metabolism. 110 (2013) 3 - p. 352-361 , 2013

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

4

Nonsense mutations in the COX1 subunit impair the stability..:

Hornig-Do, Hue-Tran ; Tatsuta, Takashi ; Buckermann, Angela...
The EMBO Journal. 31 (2012) 5 - p. 1293-1307 , 2012

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

5

Human mitochondrial ATP‐binding cassette transporter ABCB10..:

Tang, Leilei ; Bergevoet, Saskia M. ; Bakker‐Verweij, Greet...
British Journal of Haematology. 157 (2011) 1 - p. 151-154 , 2011

Link: https://doi.org/10.1111/..

6

Mitochondrial DNA replication and OXPHOS gene transcription..:

Levanets, Oksana ; Reinecke, Fimmie ; Louw, Roan...
Biochimie. 93 (2011) 4 - p. 758-765 , 2011

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

7

Nijmegen paediatric CDG rating scale: a novel tool to asses..:

Achouitar, Samira ; Mohamed, Miski ; Gardeitchik, Thatjana...
Journal of Inherited Metabolic Disease. 34 (2011) 4 - p. 923-927 , 2011

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

8

New mitochondrial tRNAHIS mutation in a family with lactic ..:

Calvaruso, Maria Antonietta ; Willemsen, Michel A. ; Rodenburg, Richard J....
Mitochondrion. 11 (2011) 5 - p. 778-782 , 2011

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

9

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of ..:

Nouws, Jessica ; Nijtmans, Leo ; Houten, Sander M....
Cell Metabolism. 12 (2010) 3 - p. 283-294 , 2010

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

10

Random Point Mutations with Major Effects on Protein-Coding..:

Edgar, Daniel ; Shabalina, Irina ; Camara, Yolanda...
Cell Metabolism. 10 (2009) 2 - p. 131-138 , 2009

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

11

Electrophoresis techniques to investigate defects in oxidat..:

Calvaruso, Maria Antonietta ; Smeitink, Jan ; Nijtmans, Leo
Methods. 46 (2008) 4 - p. 281-287 , 2008

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

12

S12.20 Delayed assembly kinetics of respiratory chain compl..:

Pello, Rosa ; Carelli, Valerio ; Martinuzzi, Andrea...
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1777 (2008) - p. S80 , 2008

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

13

Clinical and biochemical characteristics in patients with a..:

Morava, Eva ; Rodenburg, Richard J. ; Hol, Frans...
American Journal of Medical Genetics Part A. 140A (2006) 8 - p. 863-868 , 2006

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

14

Complex I assembly: a puzzling problem:

Vogel, Rutger ; Nijtmans, Leo ; Ugalde, Cristina..
Current Opinion in Neurology. 17 (2004) 2 - p. 179-186 , 2004

Link: https://doi.org/10.1097/..

15

Human mitochondrial complex I assembles through the combina..:

Ugalde, Cristina ; Vogel, Rutger ; Huijbens, Richard...
Human Molecular Genetics. 13 (2004) 20 - p. 2461-2472 , 2004

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