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Open access Aug 2026

Epigenetic dysregulation of Th2 cytokine genes in MuSK myasthenia gravis and its modulation by immunosuppressive therapy

Background and objectives Myasthenia gravis associated with antibodies against muscle-specific kinase (MuSK-MG) is a well-characterized IgG4-autoimmune disease, however, the mechanisms driving IgG4 predominance remain poorly understood. This study investigated whether promoter DNA methylation of cytokine genes involved...

Cansu Elmas, A. Stoccoro, Martina Lari et al. · 0 citations
Open access Sep 2026

Unified long-read panel for Parkinson’s and repeat expansion disorders

In this study, we designed a gene panel based on Nanopore long-read sequencing using adaptive sampling, targeting n = 564 genes associated with Parkinson’s disease (PD) and repeat expansion disorders. We investigated its diagnostic utility in n = 18 patients with (1) pathogenic variants in LRRK2, PRKN, SNCA, and RAB32...

A. Fienemann, J. C. Prietzsche, Joshua Laβ et al. · 0 citations

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