E-LIB Suche - Ergebnisse für: Shoubridge, E. A.

1

Systemic microangiopathy in Leber's hereditary optic neurop..:

Lach, B. ; Mount, J. ; Shoubridge, E....
Neuromuscular Disorders. 26 (2016) - p. S179 , 2016

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

2

PP03.4 – 2660: Recurrent metabolic crises and mitochondrial..:

Isohanni, P. ; Linnankivi, T. ; Honarmand, S....
European Journal of Paediatric Neurology. 19 (2015) - p. S37 , 2015

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

3

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/..

4

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/..

5

P02-50 A new cause of GH deficiency: Mutation in the nuclea..:

Deal, C. ; Desilets, V. ; Patry, L....
Growth Hormone & IGF Research. 22 (2012) - p. S68 , 2012

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

6

Early complex I assembly defects result in rapid turnover o..:

Zurita Rendon, O. ; Shoubridge, E. A.
Human Molecular Genetics. 21 (2012) 17 - p. 3815-3824 , 2012

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

7

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/..

8

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/..

9

A hemizygous SCO2 mutation in an early onset rapidly progre..:

LEARY, S ; MATTMAN, A ; WAI, T...
Molecular Genetics and Metabolism. 89 (2006) 1-2 - p. 129-133 , 2006

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

10

Mitochondrial DNA heteroplasmy shift in liver and retina us..:

Williams, S.L. ; Bacman, S.R. ; Bayona-Bafaluy, M.P...
Mitochondrion. 6 (2006) 5 - p. 24-25 , 2006

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

11

The Effect of Mitochondrial Heteroplasmy on Murine Physiolo..:

Acton, B.M. ; Battersby, B. ; Jurisicova, A...
Fertility and Sterility. 84 (2005) - p. S32 , 2005

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

12

Homozygosity (E140K) inSCO2causes delayed infantile onset o..:

Jaksch, M. ; Horvath, R. ; Horn, N....
Neurology. 57 (2001) 8 - p. 1440-1446 , 2001

Link: https://doi.org/10.1212/..

13

Nuclear genetic defects of oxidative phosphorylation:

Shoubridge, E. A.
Human Molecular Genetics. 10 (2001) 20 - p. 2277-2284 , 2001

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

14

Unusual Imaging Findings in Progressive Myoclonus Epilepsy:

Marrie, R. A. ; Shoubridge, E. A. ; Antel, J. P....
Epilepsia. 42 (2001) 3 - p. 430-432 , 2001

Link: https://doi.org/10.1046/..

15

Missense mutations in SURF1 associated with deficient cytoc..:

Poyau, A. ; Buchet, K. ; Fouad Bouzidi, M....
Human Genetics. 106 (2000) 2 - p. 194-205 , 2000

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