Complex patterns of dyskinesias in patients chronically treated with enterally administered levodopa/carbidopa gel
Objective: Report cases of biphasic dyskinesia in patients with advanced Parkinson's disease. Background: Diphasic dyskinesia (DD) is a complex pattern of levodopa (LD) induced diskynesia…Genetic testing in pediatric dystonia and influence of clinical factors on diagnostic yield
Objective: To identify the yield of genetic testing in suspected genetically determined pediatric dystonia. Identify differences in clinical factors among patients with confirmatory and non-confirmatory…Development of novel treatment strategies for SGCE dystonia using patient-derived induced pluripotent stem cells (iPSCs)
Objective: What are the underlying pathological mechanisms of myoclonus dystonia (DYT-SGCE)? Background: Myoclonus dystonia (DYT-SGCE, DYT11) is a combined dystonia characterized by alcohol-sensitive myoclonic-like appearance…Neural bases of dystonia penetrance and manifestation
Objective: To identify functional and structural brain organization relevant to disease penetrance and clinical manifestation in patients with familial laryngeal dystonia (LD) and their unaffected…HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.
Objective: To determine the effect of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on mouse brain RNA expression patterns in multiple brain areas, during embryonic development…HGprt deficiency affects early brain development in vivo in a mouse model of Lesch-Nyhan disease
Objective: To determine the effects of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on early brain development in vivo, in a HPRT1-deficient mouse model. Background: Lesch-Nyhan…Cerebral cavernous malformations and movement disorders
Objective: To present the unusual occurrence of movement disorders (MD) secondary to cerebral cavernous malformations (CCM). Background: CCM most frequently become manifest by seizures, focal…Transcranial neuromodulation of the Frontal Eye Fields: targeting Temporal Discrimination Thresholds (TDT) in Adult Onset Primary Torsion Dystonia (AOPTD)
Objective: We aim to further characterise the sensory processing abnormalities previously observed in AOPTD using a novel transcranial Direct Current Stimulation (tDCS) protocol. Background: AOPTD,…Altered sensory processing in somatosensory and auditory domains in laryngeal dystonia
Objective: To delineate correlates of altered sensory processing in laryngeal dystonia (LD) in both presence and absence of somatosensory input and their modulation by botulinum…Interactions within Fine Motor Control Network in Task-specific Dystonia
Objective: Using a novel methodology combining neuroimaging and transcranial magnetic stimulation(TMS), we explored the difference in the interactions between the principal nodes of the fine…
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