Associated Papers
Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene.
Sun Z et al.
American Journal of Ophthalmology, 2026
Tocilizumab as a treatment tool for ROSAH syndrome: a case report.
Teixeira-Martins R et al.
Journal of Ophthalmic Inflammation and Infection, 2025
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study.
Hong R et al.
Ophthalmic Genetics, 2025
Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges.
Shunyakova J et al.
Frontiers in Ophthalmology, 2025
Immune function analysis in a pediatric patient with a de novo ALPK1 gene mutation.
Chuan X et al.
Frontiers in Immunology, 2025
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.
Snelling T et al.
Open Biology, 2024
Quantitative Measurement of the Kinase Activity of Wildtype ALPK1 and Disease-Causing ALPK1 Mutants Using Cell-Free Radiometric Phosphorylation Assays.
Snelling T
Bio-protocol, 2024
Measurement of the Activity of Wildtype and Disease-Causing ALPK1 Mutants in Transfected Cells With a 96-Well Format NF-κB/AP-1 Reporter Assay.
Snelling T
Bio-protocol, 2024
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