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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

E. Indelicato

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Open access Sep 2026

Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia

Diagnosis of KMT2B-related dystonia remains challenging due to the high prevalence of variants of uncertain significance and technological constraint of short-read pipelines. To overcome these limitations, we integrated nanopore-based long-read sequencing with a validated KMT2B-episignature classifier to perform simult...

Ugo Sorrentino, Nazanin Mirza-Schreiber, Martin Pavlov et al. · 0 citations
Open access Aug 2026

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

Summary Background Spinocerebellar Ataxia 27B (SCA27B) is a novel, frequent and likely treatable late-onset autosomal-dominant ataxia caused by GAA repeat-expansions in FGF14. For understanding disease evolution and imminent trial planning, metrics of the most widely used clinical outcome assessment (Scale for the Asse...

A. Traschütz, Ralf-Dieter Hilgers, F. Erdlenbruch et al. · 0 citations

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