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Author

T. Serranová

h-index 19 View on Semantic Scholar

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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 Jul 2026

Mega-analysis of Structural Brain Imaging in Functional Neurological Disorder.

This large mega-analysis of brain structural morphometrics derived from T1-weighed MRI scans from fifteen international research groups suggests subtle morphometric differences, particularly in prefrontal and motor regions, may represent predisposing vulnerabilities, compensatory mechanisms, or FND-specific alterations...

Matt Butler, M. Vignando, J. Allendorfer et al. · 0 citations

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