Associated Papers
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
41141493 (PubMed )
Supplement: mmc1.pdf
The emerging neurological spectrum of AARS2-associated disorders.
Parra SP et al.
Parkinsonism & Related Disorders, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.
De Michele G et al.
Movement Disorders Clinical Practice, 2020
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