Developing a Framework for Huntington’s Disease Care Partner Training and Support – HD Care Partner Bootcamp Series
Objective: In this protocol we present a novel collaborative framework for a Huntington’s Disease (HD) Care Partner (CP) bootcamp series designed to train and support…Clinical and Genetic spectrum of Developmental dyskinetic encephalopathy – Experience from a Tertiary care centre
Objective: To provide unique data on the clinical and genetic spectrum of developmental dyskinetic encephalopathies. Background: Developmental dyskinetic encephalopathy(DDE) is a recently described clinically and…A Multidomain Fall Prevention Program: Perspectives of People with Parkinson’s Disease and their Care Partners
Objective: To explore the acceptability of a multidomain fall prevention program (Integrate) for people with Parkinson’s disease (PwP) and their care-partners, and factors that influenced…Quantitative evaluation of speech characteristics in Assessment of Motor Speech for Dysarthria (AMSD) using acoustic analysis
Objective: This study aims to extract acoustic features from speech data obtained from patients undergoing the Assessment of Motor Speech for Dysarthria (AMSD), a clinical…Sleep Quality among Lewy Body Dementia Family Caregivers
Objective: To explore the relationship between caregiver sleep quality and caregiver and care recipient characteristics in Lewy Body Dementia (LBD). Background: LBD family caregivers have…Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report
Objective: To report the first Indian patient with SCA 40 who presented in the fifth decade with a novel missense mutation (c.1291C>T, p.His431Tyr), expanding the…Prevalence and Comorbidities of Orthostatic Hypotension in Older Adults: A Two-Year Study
Objective: To determine the prevalence of OH and its associations with autonomic dysfunction, falls, and mortality. Background: Orthostatic hypotension (OH) is a common problem that…A VUS and the Value of a Biomarker in Ataxia with Oculomotor Apraxia Type 2
Objective: Objective: To demonstrate the importance of serum biomarkers, such as alpha-fetoprotein (AFP), in the diagnostic evaluation of Ataxia with Oculomotor Apraxia Type 2 (AOA2).…A Comprehensive Exploration of the Quality of Life and Caregiver Burden in Multiple System Atrophy
Objective: To evaluate the impact of MSA disease on QoL and caregiver burden and identify influencing factors of QoL in a large UK-based cohort Background:…Using Zebrafish Model to Investigate Complex Hereditary Spastic Paraplegia Caused by EPT1 Variants
Objective: To generate disease-representative zebrafish models using CRISPR-Cas9 technique.To characterise the zebrafish models by performing phenotypic characterization, neurobiological experiments, lipidomic and RNASeq studies.To test targeted…
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