Knappschaftskrankenhaus Recklinghausen

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders

Abstract Optical Genome Mapping (OGM) offers superior resolution compared to standard diagnostic methods such as karyotyping and FISH, enabling the detection of nearly all types of chromosomal aberrations with non-centromeric breakpoints. This study evaluated OGM’s potential to e...

Dystonia 3×3: A Training Guideline for Beginners in Botulinum Neurotoxin Treatment of Cervical Dystonia

Cervical dystonia (CD) is a hyperkinetic movement disorder characterized by involuntary muscle contractions leading to abnormal postures of the head and neck. The injection of botulinum neurotoxin type A (BoNT-A) into the muscles involved is the treatment of choice for CD. BoNT-A...