Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…Investigating the genetic relationship between vitamin B12 deficiency and Parkinson’s disease
Objective: The aim of this study was to investigate the genetic association and causal link between vitamin B12 and the risk and progression of Parkinson's…The First of Its Kind Genetics Cohort: the Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study
Objective: Recruit and characterize a Black and African American (BAA) cohort to better understand Parkinson’s disease (PD). Background: A significant gap exists in our understanding…Genome-wide Assessment of Homozygosity in Parkinson’s Disease Across Diverse Ancestral Population
Objective: Our objective is to undertake the most extensive screening of the impact of homozygosity in Parkinson's disease (PD) etiology across diverse populations. We aim…Latent Genetic Architecture of Parkinson’s Disease Risk factors and Comorbidities
Objective: To comprehensively investigate the genetic relationship between Parkinson’s disease (PD), its risk factors, and comorbidities by constructing a factor model of the shared genetic…Clinico-genetic profile of five patients with PARK-PINK1: A case series from India
Objective: The aim of our study is to describe the clinical features and genetic profile of patients of PARK-PINK1 and to draw correlation with genetic…The association of Severity and Monogenetic Subgroups in Parkinson’s Disease
Objective: Explore how different genotypes can affect the disease severity and progression in Parkinson's patients. Background: Genetic advances have identified specific mutations linked to disease…Hemochromatosis and Movement Disorders
Objective: To describe a series (clinical and imaging) of movement disorders occurring in patients with hemochromatosis Background: Hemochromatosis is a frequent disease, characterized by deposits…Movement Disorders in Cerebrotendinous Xanthomatosis
Objective: To report the type of movement disorders, Neuroimaging, and prognosis in nine adult patients with neurological CTX. Background: Cerebrotendinous Xanthomatosis (CTX) is a lipid…Complexity of fractal patterns in motor cortical oscillatory activity in rodent models of Parkinson disease
Objective: To investigate whether motor cortical oscillation changes in fractal patterns are associated with a change in the FD in the HALO and the 6-OHDA…
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