Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
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Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Response to GPi-DBS in a Case of EIF2AK2-Associated Early-Onset Generalized Dystonia.
Radmard S et al.
Movement Disorders Clinical Practice, 2025
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India.
Dhar D et al.
Parkinsonism & Related Disorders, 2024
A (dis)integrated stress response: Genetic diseases of eIF2α regulators.
English AM et al.
Wiley Interdisciplinary Reviews. Rna, 2022
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
Musacchio T et al.
Annals of Neurology, 2021
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Macintosh J et al.
Child Neurology Open, 0
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