E-LIB Suche - Ergebnisse für: Friederich, Marisa W.

1

ACAD9 treatment with bezafibrate and nicotinamide riboside ..:

Van Hove, Johan L.K. ; Friederich, Marisa W. ; Hock, Daniella H....
Mitochondrion. 78 (2024) - p. 101905 , 2024

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

2

Deep postnatal phenotyping of a new mouse model of nonketot..:

Swanson, Michael A. ; Jiang, Hua ; Busquet, Nicolas...
Journal of Inherited Metabolic Disease. , 2024

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

3

Clinical spectrum and genetic causes of mitochondrial hepat..:

Squires, James E. ; Miethke, Alexander G. ; Valencia, C. Alexander...
Hepatology Communications. 7 (2023) 6 - p. , 2023

Link: https://doi.org/10.1097/..

4

P258: PPA2 deficiency phenotype:

Novacic, Danica ; Gahl, William ; Van Hove, Johan...
Genetics in Medicine Open. 1 (2023) 1 - p. 100286 , 2023

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

5

Severe neonatal onset neuroregression with paroxysmal dysto..:

Poquérusse, Jessie ; Nolan, Melinda ; Thorburn, David R....
JIMD Reports. 64 (2023) 3 - p. 223-232 , 2023

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

6

Mitochondrial calcium uniporter stabilization preserves ene..:

Balderas, Enrique ; Eberhardt, David R. ; Lee, Sandra...
Nature Communications. 13 (2022) 1 - p. , 2022

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

7

Cerebrospinal fluid amino acids glycine, serine, and threon..:

Swanson, Michael A. ; Miller, Kristen ; Young, Sarah P....
Journal of Inherited Metabolic Disease. 45 (2022) 4 - p. 734-747 , 2022

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

8

A homozygous splice variant in ATP5PO, disrupts mitochondri..:

Ganapathi, Mythily ; Friocourt, Gaelle ; Gueguen, Naig...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 996-1012 , 2022

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

9

Expanding the phenotypic and molecular spectrum ofNFS1‐rela..:

Yang, Jennifer H. ; Friederich, Marisa W. ; Ellsworth, Katarzyna A....
Human Mutation. 43 (2022) 3 - p. 305-315 , 2022

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

10

Author Correction: Mitochondrial calcium uniporter stabiliz..:

Balderas, Enrique ; Eberhardt, David R. ; Lee, Sandra...
Nature Communications. 13 (2022) 1 - p. , 2022

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

11

Pathogenic variants in MRPL44 cause infantile cardiomyopath..:

Friederich, Marisa W. ; Geddes, Gabrielle C. ; Wortmann, Saskia B....
Molecular Genetics and Metabolism. 133 (2021) 4 - p. 362-371 , 2021

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

12

A novel acceptor stem variant in mitochondrial tRNATyr impa..:

Kripps, Kimberly A. ; Friederich, Marisa W. ; Chen, Ting...
Molecular Genetics and Metabolism. 131 (2020) 4 - p. 398-404 , 2020

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

13

Pathogenic variants in SQOR encoding sulfide:quinone oxidor..:

Friederich, Marisa W. ; Elias, Abdallah F. ; Kuster, Alice...
Journal of Inherited Metabolic Disease. 43 (2020) 5 - p. 1024-1036 , 2020

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

14

Pathogenic variants in NUBPL result in failure to assemble ..:

Friederich, Marisa W. ; Perez, Francisco A. ; Knight, Kaz M....
Molecular Genetics and Metabolism. 129 (2020) 3 - p. 236-242 , 2020

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

15

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encodi..:

Knight, Kaz M. ; Shelkowitz, Emily ; Larson, Austin A....
Mitochondrion. 55 (2020) - p. 8-13 , 2020

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