E-LIB Suche - Ergebnisse für: Antonicka, H

1

An N-terminal formyl methionine on COX 1 is required for th..:

Hinttala, R. ; Sasarman, F. ; Nishimura, T....
Human Molecular Genetics. 24 (2015) 14 - p. 4103-4113 , 2015

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

2

Tissue-specific responses to the LRPPRC founder mutation in..:

Sasarman, F. ; Nishimura, T. ; Antonicka, H....
Human Molecular Genetics. 24 (2014) 2 - p. 480-491 , 2014

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

3

The 2-thiouridylase function of the human MTU1 (TRMU) enzym..:

Sasarman, F. ; Antonicka, H. ; Horvath, R..
Human Molecular Genetics. 20 (2011) 23 - p. 4634-4643 , 2011

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

4

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid mi..:

Sasarman, F. ; Antonicka, H. ; Shoubridge, E. A.
Human Molecular Genetics. 17 (2008) 23 - p. 3697-3707 , 2008

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

5

Mutations in COX10 result in a defect in mitochondrial heme..:

Antonicka, H.
Human Molecular Genetics. 12 (2003) 20 - p. 2693-2702 , 2003

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

6

Mutations in C12orf65 in Patients with Encephalomyopathy an..:

Antonicka, H ; Ostergaard, E ; Sasarman, F...
Antonicka , H , Ostergaard , E , Sasarman , F , Weraarpachai , W , Wibrand , F , Pedersen , A M B , Rodenburg , R J , van der Knaap , M S , Smeitink , J A M , Chrzanowska-Lightowlers , ZM & Shoubridge , E A 2010 , ' Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect ' , American Journal of Human Genetics , vol. 87 , no. 1 , pp. 115-122 . https://doi.org/10.1016/j.ajhg.2010.06.004. , 2010

Link: https://research.vu.nl/e..

7

Functional and genetic studies demonstrate that mutation in..:

Oquendo, C ; Antonicka, H ; Shoubridge, E..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735852. , 2004

Link: http://www.ncbi.nlm.nih...

8

A novel principle for conferring selectivity to poly(A)-bin..:

Andersson, U ; Antonicka, H ; Houstek, J.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220819. , 2000

Link: http://www.ncbi.nlm.nih...

9

Defective kinetics of cytochrome c oxidase and alteration o..:

Antonická, H ; Floryk, D ; Klement, P...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220494. , 1999

Link: http://www.ncbi.nlm.nih...

10

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/..