Associated Papers
Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!
Castaldo A et al.
Erj Open Research, 2023
MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response.
Wang A et al.
The Journal of Headache and Pain, 2023
Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.
Ma Z et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2022
Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
Okamoto N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.
Gillespie MK et al.
Journal of Neuromuscular Diseases, 2019
Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature.
Abuduxikuer K et al.
World Journal of Gastroenterology, 2018
Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.
Sagi-Dain L et al.
Journal of the Peripheral Nervous System : Jpns, 2018
Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.
Sun Y et al.
Journal of Human Genetics, 2017
Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.
Hirano M et al.
Journal of the Peripheral Nervous System : Jpns, 2016
Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.
Storkebaum E
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2016
Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.
Nam SH et al.
Molecules and Cells, 2016
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.
Hyun YS et al.
Clinical Genetics, 2014