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
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Cappuccio G et al.
Human Mutation, 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
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