Joelle Thirion-Rudinger

Strasbourg, 67084, France

Last Updated: 09/26/2026

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Found 14 publications

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

Journal: Nucleic acids research
Published: June 10, 2024

RNA aptamers developed against tRip: A preliminary approach targeting tRNA entry in Plasmodium.

RNA aptamers developed against tRip: A preliminary approach targeting tRNA entry in Plasmodium.

Journal: Biochimie
Published: April 25, 2023

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

Journal: European journal of human genetics : EJHG
Published: May 31, 2022

A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.

A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.

Journal: Brain & development
Published: July 12, 2021

Identification of host tRNAs preferentially recognized by the Plasmodium surface protein tRip.

Identification of host tRNAs preferentially recognized by the Plasmodium surface protein tRip.

Journal: Nucleic acids research
Published: May 28, 2021

Structural Analysis of RNA by Small-Angle X-ray Scattering.

Structural Analysis of RNA by Small-Angle X-ray Scattering.

Journal: Methods in molecular biology (Clifton, N.J.)
Published: February 02, 2020

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Journal: Human mutation
Published: January 24, 2020

Plasmodium apicoplast tyrosyl-tRNA synthetase recognizes an unusual, simplified identity set in cognate tRNATyr.

Plasmodium apicoplast tyrosyl-tRNA synthetase recognizes an unusual, simplified identity set in cognate tRNATyr.

Journal: PloS one
Published: October 26, 2018

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

Journal: Neurology
Published: August 10, 2018

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Journal: Haematologica
Published: October 17, 2017

Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase.

Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase.

Journal: RNA biology
Published: September 02, 2015

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Journal: JIMD reports
Published: July 29, 2015
Showing 1-12 of 14

Last Updated: 09/26/2026