Associated Papers
Luteolin use in Integrated Stress Response: insight from a case of EIF2AK2-related dystonia.
Spagarino A et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2026
A EIF2AK2 missense variant misdiagnosed as autoimmune encephalitis.
Yuan B et al.
Parkinsonism & Related Disorders, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
A Chinese Child With Dystonia Linked to the EIF2AK2 Missense Variant: A Case Report.
Dai L et al.
Journal of Movement Disorders, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M et al.
Orphanet Journal of Rare Diseases, 2024
39095811 (PubMed )
Supplement: 13023_2024_3297_MOESM1_ESM.docx
Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.
Waller SE et al.
Movement Disorders Clinical Practice, 2022
Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS.
Magrinelli F et al.
Movement Disorders Clinical Practice, 2022
A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.
Musacchio T et al.
Annals of Neurology, 2021
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS et al.
Annals of Neurology, 2021
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