A case of YY1-related isolated dystonia with severe oromandibular involvement
Objective: 0 Background: Introduction: YY1 disease-causing variants are responsible for Grabiele-de-Vries syndrome, an autosomal dominant condition characterized by psychomotor developmental (PD) delay, cognitive impairment, facial dysmorphism…Exploring Local Field Potential changes in Dystonic Camptocormia.
Objective: To describe a novel technology for detection of local field potentials in bilateral GPi-DBS to identify local field potential biomarker changes in dystonic camptocormia.…Outcomes of a Peer Reviewing Education and Mentoring Program
Objective: To describe the outcomes of the first year of an educational program in peer reviewing instituted by the Young Members Group of the International…Clinical epidemiology of movement disorders in Douala General Hospital, Cameroon: A two years retrospective study
Objective: The aim of this study was to determine the frequency of movement disorders and their characteristics in the outpatient department of neurology at the…Prevalence of advanced Parkinson’s disease in Thai patients with Parkinson’s disease using The Consensus on the Definition of Advance Parkinson’s disease (CEPA Study): A single-center study
Objective: This study's primary aim was to identify the prevalence of APD in Thai PD patients using CEPA’s definition. Demographic data, some motor and non-motor symptoms…Excessive directional antisaccade errors in Tourette Syndrome with Attention-deficit Hyperactivity Disorder: a case report
Objective: To describe a case of a young man diagnosed with Tourette Syndrome and Attention-Deficit Hyperactivity Disorder, where oculomotor tics were observed as the main…Evaluation of CSF Assay usability for Huntington’s Disease (HD) Clinical Studies (mHTT, tHTT and NFL in HDClarity)
Objective: Evaluate clinical utility of candidate biomarker assays for HD studies. Background: Multiple clinical trials targeting the lowering of huntingtin (HTT) are underway or planned.…Syntactic and Theory of Mind difficulties in Huntington’s disease
Objective: The aim of the present study was to further examine the syntactic impairment in HD on the basis of the disease progression and in…Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…Progression of Syndrome Specific Metabolic Brain Patterns in Patients with Various Parkinsonian Syndromes
Objective: To analyse the follow-up changes in the expression of the three syndrome specific metabolic patterns in a cohort of parkinsonian patients who underwent 18F-FDG…
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