Improvement of movement disorder and neurodevelopment under selegiline in a CLTC deficient patient
Objective: We report the significative improvement on both movement disorder and neurodevelopment in a 5-year-old CLTC deficient patient treated with selegiline. Background: In 2019 we described a 30-year-old woman…DaxibotulinumtoxinA for Injection in Adults With Upper Limb Spasticity After Stroke or Traumatic Brain Injury: A Randomized Placebo-Controlled Study (JUNIPER)
Objective: To evaluate the efficacy and safety of 3 doses of DaxibotulinumtoxinA for Injection (DAXI) vs placebo for adults with upper limb spasticity (ULS) after…Dual target deep brain stimulation for clinically complex tremor disorders: a single centre prospective study
Objective: We present a case series of patients with refractory complex tremor treated with dual targeting DBS of ViM and pSTN/cZI. Background: The ventral intermediate (ViM) nucleus…Survival and progression in GBA-associated dementia with Lewy bodies
Objective: To assess the impact of GBA mutations and APOE polymorphisms on progression and survival in a cohort of Ashkenazi Jewish (AJ) patients with DLB.…A precompetitive consortium approach to designing a qualitative study to generate content validity evidence to support the use of digital health technologies among people with early Parkinson’s disease
Objective: To understand from the patient perspective the relevance and comprehensiveness of the performance outcome (PerfO) measures administered via digital health technologies (DHTs) in the…Motor, epileptic, and developmental phenotypes in genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism
Objective: To provide a detailed clinical characterization of genetic disorders affecting G-protein coupled receptor signaling and cAMP metabolism Background: Genetic disorders affecting G-protein coupled receptor (GPCRs) signaling…Safety and Efficacy of Verdiperstat, a Novel Myeloperoxidase Inhibitor, in MSA
Objective: To present results from M-STAR, a phase 3, randomized controlled trial evaluating the disease modifying effect of verdiperstat in participants with MSA. Background: MSA…Temporal Dynamic Alterations of Regional Homogeneity in Parkinson’s disease: A Resting-State fMRI Study
Objective: We aimed to test the differences of dynamic regional homogeneity (dReHo) between PD patients and healthy controls (HCs), and explore whether dReHo can be…A low-cost system using a big-data deep-learning framework for assessing physical tele-rehabilitation: a proof-of-concept
Objective: The consolidation of tele-rehabilitation for the treatment of many diseases over the last decades is a result of its cost-effective results and its ability…Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report
Objective: report the case of a young woman who presented with rapidly progressive ataxia caused by an ovarian teratoma Background: paraneoplastic cerebellar degeneration (PCD) is…
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