Suchergebnisse - "Taylor, Robert W"

PubPharm (674)

1

Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology

enthalten in: The Analyst | 2024

von Alix, J. | Plesia, M. | Dudgeon, A. | +9

2

Genetic diagnosis of Mendelian disorders via RNA sequencing

enthalten in: bioRxiv.org | 2024

von Kremer, L. | Bader, D. | Mertes, C. | +29

3

FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors

enthalten in: bioRxiv.org | 2024

von Nguyen-Dien, G. | Kozul, K. | Cui, Y. | +14

4

Fosgonimeton attenuates amyloid-beta toxicity in preclinical models of Alzheimer's disease

enthalten in: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics | 2024

von Reda, S. | Setti, S. | Berthiaume, A. | +6

5

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

enthalten in: Brain : a journal of neurology | 2024

von Kaiyrzhanov, R. | Rad, A. | Lin, S. | +86

6

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

enthalten in: Brain : a journal of neurology | 2024

von Husain, R. | Jiao, X. | Hennings, J. | +37

7

Genetic landscape of pediatric acute liver failure of indeterminate origin

enthalten in: Hepatology (Baltimore, Md.) | 2024

von Lenz, D. | Schlieben, L. | Shimura, M. | +92

8

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

enthalten in: Nature genetics | 2024

von Töpf, A. | Cox, D. | Zaharieva, I. | +82

9

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Brunet, T. | Zott, B. | Lieftüchter, V. | +46

10

Leigh syndrome : an adult presentation of a paediatric disease

enthalten in: Practical neurology | 2024

von Watson-Fargie, T. | Marshall, V. | Fullerton, N. | +9

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