E-LIB Suche - Ergebnisse für: Rodenburg, R.J

1

P.63Chronic progressive external ophthalmoplegia (CPEO) and..:

Schoenaker, R. ; Kamsteeg, E. ; Rodenburg, R....
Neuromuscular Disorders. 29 (2019) - p. S59 , 2019

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

2

Skeletal muscle toxicity associated with tyrosine kinase in..:

Janssen, L. ; Frambach, S. J. C. M. ; Allard, N. A. E....
Leukemia. 33 (2019) 8 - p. 2116-2120 , 2019

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

3

QIL1-dependent assembly of MICOS complex–lethal mutation in..:

Gödiker, J. ; Grüneberg, M. ; DuChesne, I....
Journal of Human Genetics. 63 (2018) 6 - p. 707-716 , 2018

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

4

Validation of the Chowdhury overall survival score in patie..:

Rodenburg, R. J. ; Hanssens, P. E. ; Ho, V. K. Y..
Journal of Neuro-Oncology. 138 (2018) 2 - p. 391-399 , 2018

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

5

Childhood-onset Leigh syndrome transforming into an episodi..:

Wagner, A. ; Alhaddad, B. ; Ahting, U....
European Journal of Paediatric Neurology. 21 (2017) - p. e128-e129 , 2017

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

6

Mining for mitochondrial mechanisms: Linking known syndrome..:

Panneman, D.M. ; Smeitink, J.A. ; Rodenburg, R.J.
Clinical Genetics. 93 (2017) 5 - p. 943-951 , 2017

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

7

P08.26 Venous thromboembolism and survival in patients with..:

Rodenburg, R. J. ; Beerepoot, L. V.
Neuro-Oncology. 18 (2016) suppl_4 - p. iv46-iv46 , 2016

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

8

A lethal neonatal phenotype of mitochondrial short-chain en..:

Al Mutairi, F. ; Shamseldin, H.E. ; Alfadhel, M...
Clinical Genetics. 91 (2016) 4 - p. 629-633 , 2016

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

9

P13.08 The validation of Melanoma GPA and Chowdhury overall..:

Rodenburg, R. J. ; Hanssens, P. E. J.
Neuro-Oncology. 18 (2016) suppl_4 - p. iv70-iv71 , 2016

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

10

A simple and versatile method for frequent 24h blood sample..:

Akintola, A.A. ; Jansen, S.W. ; Wilde, R.B.P....
MethodsX. 2 (2015) - p. 33-38 , 2015

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

11

PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunct..:

Freisinger, P. ; Haack, T.B. ; Kölker, S....
European Journal of Paediatric Neurology. 19 (2015) - p. S36 , 2015

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

12

Suboptimal mitochondrial function in depression:

Emmerzaal, T.L. ; Geenen, B. ; Scott, K....
Mitochondrion. 24 (2015) - p. S27 , 2015

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

13

The role of mitochondrial OXPHOS dysfunction in the develop..:

Breuer, M.E. ; Koopman, W.J. ; Koene, S....
Neurobiology of Disease. 51 (2013) - p. 27-34 , 2013

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

14

Natural disease course and genotype‐phenotype correlations ..:

Koene, S. ; Rodenburg, R. J. ; van der Knaap, M. S....
Journal of Inherited Metabolic Disease. 35 (2012) 5 - p. 737-747 , 2012

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

15

Tissue specific metabolic consequences of isolated mitochon..:

Manjeri, G. ; Roelofs, S. ; Janssen, A....
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1817 (2012) - p. S58 , 2012

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