Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention
for medically refractory segmental and generalized dystonia in both children and adults …

Cellular trafficking is essential to maintain critical biological functions. Mutations in 346
genes, most of them described in the last 5 years, are associated with disorders of cellular …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Dystonia is a hyperkinetic movement disorder characterized by abnormal movement or
posture caused by excessive muscle contraction. Because of its wide clinical spectrum …

Genome-wide association studies using large-scale genome and exome sequencing data
have become increasingly valuable in identifying associations between genetic variants and …

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

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Objective To evaluate the relationship between health-related quality of life (HR-QoL) and
both physical and psychiatric factors in a large, international, multicentre cohort of patients …