Neues aus der neuromuskulären Grundlagenforschung

Zusammenfassung

Die neuromuskuläre Forschung hat revolutionäre Erweiterungen des technischen Repertoires erlebt. Die vorliegende Arbeit diskutiert die wesentlichen Entwicklungen auf den Gebieten der genetischen Diagnostik, der “Omics”-Anwendungen vom Epigenom bis zum Proteom, der Genom-Editierung in Tierund Zellmodellen sowie neue optische Bildgebungsverfahren, die sowohl die neuromuskuläre Grundlagenforschung als auch die translationale und klinische Forschung transformieren.

Summary

Neuromuscular research has experienced over the last few years revolutionary advances in technical possibilities. This article discusses essential developments in genetic diagnostics, “omics”-approaches from epigenome to proteome, genome editing in animal and cell models, and new optical imaging modalities that are likely to be transformative from fundamental muscle research to translational and clinical research.

Schlüsselwörter

Neuromuskuläre Erkrankungen - Genetik - hochauflösende Mikroskopie - Tiermodelle

Keywords

Neuromuscular diseases - genetics - superresolution microscopy - animal models

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