LIG1 polymorphism modifies the age at onset in patients with Spinocerebellar Ataxia type 2
Objective: Assessing the role of LIG1 Exon 6 A→C polymorphism acting as a modifier of clinical severity in patients with Spinocerebellar ataxia type 2 (SCA2).…Time-to-event approach mitigates the treatment masking effect of symptomatics on MDS-UPDRS Part III
Objective: To assess whether a time-to-event (TTE) approach may mitigate the masking effect of changing symptomatic therapy on Movement Disorders Society–Unified Parkinson’s Disease (PD) Rating…Local Field Potential Recordings in Parkinson’s Disease at Home: A Case Series Report
Objective: To report novel, real-world use of chronic local field potential (LFP) sensing in patients with Parkinson’s disease (PD) outside-of-clinic settings. Background: Recent advancements in…ADS024 attenuates striatal dopamine loss and restores movement in animal models of Parkinson’s disease
Objective: To evaluate the effect of ADS024, an oral single strain live biotherapeutic product (SS-LBP), on the pathophysiology of MPTP-induced Parkinson’s Disease (PD) phenotypes in…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…
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