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Rust, Stephan
171
results:
Articles (Online) X
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Languages
english (145)
german (20)
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1
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suff..:
Penkl, Maximilian
;
Mayr, Johannes A.
;
Feichtinger, René G.
...
Metabolites. 14 (2024) 4 - p. 238 , 2024
Link:
https://doi.org/10.3390/..
?
2
SORDD: mutation frequency and phenotype in predominantly ax..:
Arlt, Annabelle
;
Akova-Öztürk, Esra
;
Schirmacher, Anja
...
Journal of Neurogenetics. 38 (2024) 2 - p. 35-40 , 2024
Link:
https://doi.org/10.1080/..
?
3
Mitochondrial DNA mutations in Medulloblastoma:
Funke, Viktoria L. E.
;
Sandmann, Sarah
;
Melcher, Viktoria
...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
4
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosi..:
Quitmann, Christina M.
;
Rust, Stephan
;
Reunert, Janine
...
Child Neurology Open. 8 (2021) - p. 2329048X2110349 , 2021
Link:
https://doi.org/10.1177/..
?
5
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial D..:
Belkheir, Aziza Miriam
;
Reunert, Janine
;
Elpers, Christiane
...
Frontiers in Neurology. 12 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
6
A mutation in the neonatal isoform of SCN2A causes neonatal..:
Penkl, Anja
;
Reunert, Janine
;
Debus, Otfried M.
...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 941-947 , 2021
Link:
https://doi.org/10.1002/..
?
7
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A no..:
Meyer, Melanie
;
Hollenbeck, Jana C.
;
Reunert, Janine
...
Journal of Inherited Metabolic Disease. 44 (2021) 6 - p. 1323-1329 , 2021
Link:
https://doi.org/10.1002/..
?
8
Uridine Treatment of the First Known Case of SLC25A36 Defic..:
Jasper, Luisa
;
Scarcia, Pasquale
;
Rust, Stephan
...
International Journal of Molecular Sciences. 22 (2021) 18 - p. 9929 , 2021
Link:
https://doi.org/10.3390/..
?
9
Translational balancing questioned: Unaltered glycosylation..:
Kemme, Lisa
;
Grüneberg, Marianne
;
Reunert, Janine
...
JIMD Reports. 60 (2021) 1 - p. 42-55 , 2021
Link:
https://doi.org/10.1002/..
?
10
N‐glycome analysis detects dysglycosylation missed by conve..:
Park, Julien H.
;
Mealer, Robert G.
;
Elias, Abdallah F.
...
Journal of Inherited Metabolic Disease. 43 (2020) 6 - p. 1370-1381 , 2020
Link:
https://doi.org/10.1002/..
?
11
Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozyg..:
Reunert, Janine
;
van den Heuvel, Alijda
;
Rust, Stephan
.
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 930-936 , 2020
Link:
https://doi.org/10.1002/..
?
12
SLC37A4-CDG: Mislocalization of the glucose-6-phosphate tra..:
Marquardt, Thorsten
;
Bzduch, Vladimir
;
Hogrebe, Max
...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100636 , 2020
Link:
https://doi.org/10.1016/..
?
13
Transient N‐glycosylation abnormalities likely due to a de ..:
Reunert, Janine
;
Rust, Stephan
;
Grüneberg, Marianne
...
American Journal of Medical Genetics Part A. 179 (2019) 7 - p. 1371-1375 , 2019
Link:
https://doi.org/10.1002/..
?
14
SOD1 deficiency: a novel syndrome distinct from amyotrophic..:
Park, Julien H
;
Elpers, Christiane
;
Reunert, Janine
...
Brain. 142 (2019) 8 - p. 2230-2237 , 2019
Link:
https://doi.org/10.1093/..
?
15
SLC39A8 deficiency: biochemical correction and major clinic..:
Park, Julien H.
;
Hogrebe, Max
;
Fobker, Manfred
...
Genetics in Medicine. 20 (2018) 2 - p. 259-268 , 2018
Link:
https://doi.org/10.1038/..
1-15