Functional characterization of the upstream start codon in the GCH1 gene
Objective: To examine (1) the -22C > T point mutation which introduces a premature start codon upstream of the normal open reading frame (ORF) of…Mutational analysis of GNAL gene in isolated dystonia patients from Spain
Objective: To study the frequency and spectrum of GNAL genetic variations in a large population of isolated dystonia (DT) patients from Spain. Background: GNAL encodes…Motor variability and learning indices in DYT1 dystonia
Objective: To examine motor variability in DYT1 dystonia and its interaction with subtypes of motor learning. Background: In healthy subjects it is now known that…Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy
Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…Probable REM sleep behaviour disorder and detrusor overactivity in primary cervical dystonia- A case report
Objective: To report two atypical associations of pRBD and DO we came across with a case of primary cervical dystonia. Background: RBD (REM sleep Behaviour…Altered glutamate response and calcium dynamics in iPSC derived striatal neurons from XDP-patients
Objective: Our objective was to generate an in vitro model of XDP based on striatal neurons differentiated from induced pluripotent stem cells (iPSC), followed by…Localization of basal ganglia and thalamic damage in dyskinetic cerebral palsy
Objective: To quantitatively consolidate published reports of deep grey matter injury in cerebral palsy to determine the patterns of injury associated with dystonia and dyskinesias.…
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