Suchergebnisse - "Mitochondrial disease"

PubPharm (430)

1

The application of brain organoid for drug discovery in mitochondrial diseases

enthalten in: The international journal of biochemistry & cell biology | 2024

von Liang, K.

2

The alternative enzymes-bearing tunicates lack multiple widely distributed genes coding for peripheral OXPHOS subunits

enthalten in: Biochimica et biophysica acta. Bioenergetics | 2024

von Othonicar, M. | Garcia, G. | Oliveira, M.

3

Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation

enthalten in: Acta neurologica Belgica | 2024

von Rezaei, M. | Dourandish, Z. | Kiani Mehr, G. | +2

4

A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing

enthalten in: Heliyon | 2024

von Wang, Y. | He, J. | Dong, F. | +7

5

Bridging the clinical-research gap : Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

enthalten in: Molecular genetics and metabolism | 2024

von MacMullen, L. | George-Sankoh, I. | Stanley, K. | +5

6

A novel variant of DNM1L expanding the clinical phenotypic spectrum : a case report and literature review

enthalten in: BMC pediatrics | 2024

von Zhang, Z. | Bie, X. | Chen, Z. | +8

7

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review

enthalten in: BMC pediatrics | 2024

von Zhang, Z. | Bie, X. | Chen, Z. | +8

8

Current management of primary mitochondrial disorders in EU countries : the European Reference Networks survey

enthalten in: Journal of neurology | 2024

von Mancuso, M. | Lopriore, P. | Lamperti, C. | +11

9

SERAC1 gene mutation presented with markedly alpha fetoprotein elevation : case report

enthalten in: Acta neurologica Belgica | 2024

von Bayrak, H. | Sezer, A. | Danış, A. | +3

10

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea

enthalten in: Diabetes & metabolism journal | 2024

von Rho, E. | Baek, S. | Lee, H. | +4

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