Imaging Analysis of the International Tourette Syndrome Deep Brain Stimulation Registry and Database
Objective: We performed a retrospective analysis of Tourette syndrome (TS) patients receiving deep brain stimulation (DBS) therapy as part of the Tourette Association of America…Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To provide a comprehensive quantitative and qualitative characterization of speech and swallowing function in ARSACS to support diagnostics, provide insights into the underlying pathology,…MicroRNAs Unveil Metabolic Imbalance in Spinocerebellar Ataxia Type-2
Objective: To correlate differentially expressed non-coding microRNA of peripheral blood mononuclear cells (PBMCs) with SCA2 pathogenesis. Background: Spinocerebellar ataxia aype-2 (SCA2), the most common SCA…Open-label pilot trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To determine if citicoline was safe and effective for treatment of tremor and balance abnormalities and stabilization of cognitive decline in patients with FXTAS.…Influence of disease progression on the quality of life of individuals with spinocerebellar ataxia type 10
Objective: To evaluate quality of life (QoL) of individuals with Spinocerebellar Ataxia Type 10 (SCA10) and investigate whether there is an association between self-perception and…Chorea and Ataxia as Manifestations of Xeroderma Pigmentosum: A Case Report
Objective: To report a case of a 51-year-old woman with recurrent basal cell carcinoma, severe photosensitivity, and progressive chorea and ataxia caused by xeroderma pigmentosum…Effects of a combined approach with botulinum toxin (BONT) and motor-learning techniques (MLT) on sensori-motor functional connectivity in patients with cervical dystonia (CD)
Objective: Aim of this study is to evaluate sensori-motor connectivity associated with a multimodal BoNT/MLT teratment in CD patients using advanced Resonance Imaging (MRI) techniques.…Prevalence and Correlates of Anxiety & Depression in Cervical Dystonia
Objective: Our aim was to assess the prevalence and severity of mood disorder in our Cervical Dystonia population attending the botulinum toxin clinic and to…Generation and in-depth characterization of induced pluripotent stem cell (iPSC) lines from 10 affected and unaffected carriers of THAP1 mutations
Objective: To establish induced pluripotent stem cells (iPSCs) of affected and unaffected Mutation carriers to investigate disease mechanisms of THAP1 in dystonia. Background: Mutations in…A Registry of Real-World Outcomes Using Deep Brain Stimulation for the Treatment of Dystonia
Objective: The objective of this device registry entails collecting clinical outcomes, economic value and technical performance of a Deep Brain Stimulation (DBS) system capable of…
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