Suchergebnisse - "Olson, Alexandra N."

PubPharm (9)

1

Correction : A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

enthalten in: Journal of human genetics | 2023

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Olson, A. | +8

ErratumFor: J Hum Genet. 2023 Aug;68(8):543-550. - PMID 37072624

2

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

enthalten in: Journal of human genetics | 2023

von Rodríguez-García, M. | Cotrina-Vinagre, F. | Olson, A. | +8

ErratumIn: J Hum Genet. 2023 May 26;:. - PMID 37237142

3

Deep mutational analysis of elongation factor eEF2 residues implicated in human disease to identify functionally important contacts with the ribosome

enthalten in: The Journal of biological chemistry | 2023

von Olson, A. | Song, S. | Dinman, J.

4

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

enthalten in: Human molecular genetics | 2021

von Nabais Sá, M. | Olson, A. | Yoon, G. | +9

5

Structural and functional conservation of the programmed −1 ribosomal frameshift signal of SARS-CoV-2

enthalten in: bioRxiv.org | 2020

von Kelly, J. | Olson, A. | Neupane, K. | +5

6

Two Ribosomes Are Better Than One... Sometimes

enthalten in: Molecular cell | 2020

von Olson, A. | Dinman, J.

CommentOn: Mol Cell. 2020 Aug 20;79(4):588-602.e6. - PMID 32615089

7

Structural and functional conservation of the programmed -1 ribosomal frameshift signal of SARS coronavirus 2 (SARS-CoV-2)

enthalten in: The Journal of biological chemistry | 2020

von Kelly, J. | Olson, A. | Neupane, K. | +5

UpdateOf: bioRxiv. 2020 Jun 15;:. - PMID 32587971

8

Structural and functional conservation of the programmed -1 ribosomal frameshift signal of SARS-CoV-2

enthalten in: bioRxiv : the preprint server for biology | 2020

von Kelly, J. | Olson, A. | Neupane, K. | +5

UpdateIn: This article has been published with doi: 10.1074/jbc.ac120.013449

9

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

enthalten in: Nucleic acids research | 2020

von Lezzerini, M. | Penzo, M. | O'Donohue, M. | +25

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