E-LIB Suche - Ergebnisse für: Rodenburg, Richard J

1

Leber's hereditary optic neuropathy like disease in MT-ATP6..:

de Muijnck, Cansu ; van Schooneveld, Mary J. ; Plomp, Astrid S....
American Journal of Ophthalmology Case Reports. 34 (2024) - p. 102070 , 2024

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

2

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene..:

de Muijnck, Cansu ; Brink, Jacoline B. ten ; de Haan, Hugoline G....
Genes. 15 (2024) 5 - p. 530 , 2024

Link: https://doi.org/10.3390/..

3

Brody Disease, an Early-Onset Myopathy With Delayed Relaxat..:

Verhoeven, Jamie I. ; Kramer, Jasper ; Seeger, Juergen...
Neurology. 102 (2024) 5 - p. , 2024

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

4

Human SIRT5 variants with reduced stability and activity do..:

Yuan, Taolin ; Kumar, Surinder ; Skinner, Mary E....
iScience. 27 (2024) 6 - p. 109991 , 2024

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

5

CYP2U1: An emerging treatable neurometabolic disease with c..:

Wong, Sheila Suet-Na ; Yuen, Liz Yuet-Ping ; Kan, Elaine...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101023 , 2024

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

6

Lack of mitochondrial complex I assembly factor NDUFAF2 res..:

Abu Hanna, Firas ; Zehavi, Yoav ; Cohen-Barak, Eran...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

7

Characterisation of an Adult Zebrafish Model for SDHB-Assoc..:

Miltenburg, Jasmijn B. ; Gorissen, Marnix ; van Outersterp, Inge...
International Journal of Molecular Sciences. 25 (2024) 13 - p. 7262 , 2024

Link: https://doi.org/10.3390/..

8

Lessons learned from rapid exome sequencing for 575 critica..:

Marouane, Abderrahim ; Neveling, Kornelia ; Deden, A. Chantal...
Frontiers in Genetics. 14 (2024) - p. , 2024

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

9

SMDT1 variants impair EMRE-mediated mitochondrial calcium u..:

Bulthuis, Elianne P. ; Adjobo-Hermans, Merel J.W. ; de Potter, Bastiaan...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1869 (2023) 8 - p. 166808 , 2023

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

10

Diagnosing, discarding, or de-VUSsing: A practical guide to..:

Ferreira, Elise A. ; Veenvliet, Annemarijne R.J. ; Engelke, Udo F.H....
Genetics in Medicine. 25 (2023) 1 - p. 125-134 , 2023

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

11

Comparative Clustering (CompaCt) of eukaryote complexomes i..:

van Strien, Joeri ; Evers, Felix ; Lutikurti, Madhurya...
PLOS Computational Biology. 19 (2023) 8 - p. e1011090 , 2023

Link: https://doi.org/10.1371/..

12

Recessive pathogenic variants in MCAT cause combined oxidat..:

Nowinski, Sara M ; Webb, Bryn D ; Solmonson, Ashley...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

13

RRM1 variants cause a mitochondrial DNA maintenance disorde..:

Shintaku, Jonathan ; Pernice, Wolfgang M. ; Eyaid, Wafaa...
Journal of Clinical Investigation. 132 (2022) 13 - p. , 2022

Link: https://doi.org/10.1172/..

14

Isolated Mitochondrial Complex Deficiencies:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,

Janssen, Mirian C. H. ; de Vries, Maaike C. ; de Boer, Lonneke. - p. 793-841 , 2022

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

15

The decylTPP mitochondria-targeting moiety lowers electron ..:

Bulthuis, Elianne P. ; Einer, Claudia ; Distelmaier, Felix...
Free Radical Biology and Medicine. 188 (2022) - p. 434-446 , 2022

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