Author

A. Vossough

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Open access Oct 2026

Early Severe Moyamoya Disease Due to a Monoallelic RNF213 Variant in Monozygotic Twins

Moyamoya disease (MMD) is an arteriopathy causing pediatric ischemic stroke and is characterized by progressive stenosis of the intracranial internal carotid arteries. Although genetic risk factors have been identified, the pathogenesis of MMD remains incompletely understood, and significant gaps persist in linking gen...

Samuel J. Belfer, Rohan Vij, L. Beslow et al. · Neurology: Genetics · 0 citations

Review Aug 2026

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Six patients from five unrelated families with biallelic, rare IRAK4 variants presenting with severe, persistent autoinflammation without immunodeficiency are identified and a strongly concordant clinical and radiological phenotype emerges of IRAK4-mediated autoinflammation, expanding the phenotypic and mutational spec...

E. Wiener, R. Rius, C. D. Dominguez Gonzalez et al. · medRxiv · 0 citations