E-LIB Suche - Ergebnisse für: Hathazi, Denisa

1

Multi-level profiling unravels mitochondrial dysfunction in..:

Kleefeld, Felix ; Horvath, Rita ; Pinal-Fernandez, Iago...
Acta Neuropathologica. 147 (2024) 1 - p. , 2024

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

2

Mitochondrial aminoacyl-tRNA synthetases trigger unique com..:

Podmanicky, Oliver ; Gao, Fei ; Munro, Benjamin...
Human Molecular Genetics. 33 (2023) 5 - p. 435-447 , 2023

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

3

Periostin as a blood biomarker of muscle cell fibrosis, car..:

Nguyen, Chi D. L. ; Jimenez-Moreno, Aura Cecilia ; Merker, Monika...
Journal of Neurology. , 2023

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

4

Molecular mechanisms in chloroquine‐exposed muscle cells el..:

Phan, Vietxuan ; Hathazi, Denisa ; Preuße, Corinna...
Neuropathology and Applied Neurobiology. 49 (2023) 1 - p. , 2023

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

5

Mitochondrial DNA editing with mitoARCUS:

Hathazi, Denisa ; Horvath, Rita
Nature Metabolism. 5 (2023) 12 - p. 2039-2040 , 2023

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

6

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disea..:

Jennings, Matthew J ; Kagiava, Alexia ; Vendredy, Leen...
Brain. 145 (2022) 11 - p. 3999-4015 , 2022

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

7

INPP5K and SIL1 associated pathologies with overlapping cli..:

Hathazi, Denisa ; Cox, Dan ; D'Amico, Adele...
Brain. 144 (2021) 8 - p. 2427-2442 , 2021

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

8

High diagnostic rate of trio exome sequencing in consanguin..:

Hiz Kurul, Semra ; Oktay, Yavuz ; Töpf, Ana...
Brain. 145 (2021) 4 - p. 1507-1518 , 2021

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

9

Intracellular Lipid Accumulation and Mitochondrial Dysfunct..:

Jennings, Matthew J. ; Hathazi, Denisa ; Nguyen, Chi D. L....
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

10

Autosomal recessive variants in TUBGCP2 alter the γ-tubulin..:

Gungor, Serdal ; Oktay, Yavuz ; Hiz, Semra...
iScience. 24 (2021) 1 - p. 101948 , 2021

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

11

Targeting the neuromuscular junction to treat congenital my..:

Lochmuller, Hanns ; Spendiff, Sally ; Hathazi, Denisa...
Neurology. 94 (2020) 15_supplement - p. , 2020

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

12

Metabolic shift underlies recovery in reversible infantile ..:

Hathazi, Denisa ; Griffin, Helen ; Jennings, Matthew J...
The EMBO Journal. 39 (2020) 23 - p. , 2020

Link: https://doi.org/10.15252..

13

Tracking the nature of neuromuscular disorders via combined..:

Hathazi, Denisa , 2019

Link: https://nbn-resolving.de..

14

Identification of Cellular Pathogenicity Markers for SIL1 M..:

Gatz, Christian ; Hathazi, Denisa ; Münchberg, Ute...
Frontiers in Neurology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

15

Clinical presentation and proteomic signature of patients w..:

Mingirulli, Nadja ; Pyle, Angela ; Hathazi, Denisa...
Journal of Inherited Metabolic Disease. 43 (2019) 2 - p. 297-308 , 2019

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