Associated Papers
Hyperkinetic Movement Disorder in KARS1-Related Disease: An Illustrative Video-Recorded Case and Narrative Literature Review.
Ferasin V et al.
Neurology International, 2025
Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.
Bejma TA et al.
American Journal of Medical Genetics. Part A, 2024
KARS Mutations Impair Brain Myelination by Inducing Oligodendrocyte Deficiency: One Potential Mechanism and Improvement by Melatonin.
Yu L et al.
Journal of Pineal Research, 2024
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
Peluso F et al.
Bmc Medical Genomics, 2021
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope H et al.
Molecular Genetics & Genomic Medicine, 2020
Hearing impairment-associated KARS mutations lead to defects in aminoacylation of both cytoplasmic and mitochondrial tRNALys.
Wang Y et al.
Science China. Life Sciences, 2020
Whole genome sequencing and rare variant analysis in essential tremor families.
Odgerel Z et al.
Plos One, 2019
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Ruzzenente B et al.
Human Mutation, 2018
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
Zhou XL et al.
Human Mutation, 2017
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