Movement disorders include monogenic modes of inheritance due to rare variants of large
effect size and polygenic forms involving many loci with mild effects. We identified variants in …

The discovery of many new genes in the era of next generation sequencing has changed
the traditional classification systems for movement disorders. Mutations in movement …

In den letzten Jahren wurden zahlreiche genetische Ursachen für Bewegungsstörungen wie
Parkinson-Syndrom, Dystonie, Restless-legs-Syndrom und essenzieller Tremor identifiziert …

Background Protein synthesis is a tightly controlled process, involving a host of translation‐
initiation factors and microRNA‐associated repressors. Variants in the translational regulator …

Recent years have seen fascinating developments in the field of genetics. New technologies
have, and continue to, enter the market; new genes have been and continue to be identified …

Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

Following MDSGene's protocol, seven genes linked to isolated dystonia were recently
reviewed. 1 Since then, pathogenic variants in three additional genes, VPS16, 2 EIF2AK2, 3 …

This thesis presents my work using both next-generation and traditional genetic techniques
aimed at further clarifying the aetiology of hereditary neurological disorders, with a particular …

Aim: The scope of this thesis is to identify through a Next-Generation Sequencing (NGS)
approach novel genes and genetic variants associated with hereditary dystonia …

Use of next-generation sequencing, including whole-exome sequencing (WES) has not only
allowed diagnosis to be reached in patients with atypical phenotypes, but also led to …