iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…How does the PPP2R2B mutation alter neuronal cytoskeletal structure in SCA12
Objective: To study the effect of the PPP2R2B mutation on human induced pluripotent stem cell (iPSC) derived neurons in SCA12 patients. Background: SCA12 is an…Spinocerebellar ataxia type 2 specific microRNAs may have an effect on neurodegeneration.
Objective: 1.Identification of microRNA in whole blood PBMCs of SCA2 patients .2.Target prediction and pathway analysis of spinocerebellar ataxia type 2 identified miRNAs. 3.Validation of…Medication Effects on Bradykinesia and Tremor in Parkinson’s Disease, Measured by Wearable Sensors
Objective: To determine the responsiveness to the effects of medication of home based unsupervised wearable sensor assessed tests for the evaluation of bradykinesia and tremor…Creating myPPMI: an Online Portal to Deliver Study Participant Content
Objective: Building a centralized platform to collect patient reported outcomes and provide educational and informational content to participants Background: Patient portals are a valued healthcare…Variant Ataxia Telangiectasia: A Novel ATM Gene Mutation With Disabling Tremor and Response to Deep Brain Stimulation
Objective: We describe a patient with a novel ATM gene variant presenting with tremor, neuropathy, and late-onset ataxia. Background: Ataxia Telangiectasia (AT) is an autosomal…Baseline Data of the Mobilise-D Parkinson Cohort
Objective: To report baseline data of the Parkinson’s disease (PD) cohort in the Mobilise-D project. Background: Mobility is one of the most affected domains in…Comparative Analysis of GAITRite and Moticon Digital Insoles for Gait Assessment in Parkinson’s Disease Patients Before and After Levodopa Administration
Objective: Parkinson’s disease (PD) is characterized by gait impairments, impacting patient mobility and quality of life. This study compares a reference gait measurement system, GAITRite (GR) against digital…Speech Processing System for Parkinson’s Disease Using Mixed Reality
Objective: Our initiative aims to develop an integrated AR/MR platform for collecting diagnostic data and monitoring patients with neurodegenerative diseases using digital markers from registered…Gait Analysis in the 6-Hydroxydopamine Hemiparkinson Rat Model with Deep Brain Stimulation in the Subthalamic nucleus
Objective: The study aims to quantify motor improvement after chronic subthalamic nucleus deep brain stimulation (STN-DBS) in the 6-hydroxydopamine (6-OHDA) hemiparkinson rat model using a…
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