Homozygous PRKN exon 3 deletion in an early-onset Parkinson’s disease family from the Kadazan-Dusun ethnic group indigenous to Sabah, Malaysia
Objective: To determine the causal gene for early-onset Parkinson’s disease (PD) in a Malaysian family of Kadazan-Dusun ethnicity. Background: Among Asian populations, relatively little is…Metabolic alterations in a Drosophila model of Parkinson’s disease
Objective: Identification of metabolic alterations that could be contributing to Parkinson’s disease (PD) physiopathology and become new biomarkers or therapeutic targets for the disease. Background:…Wearable sensors are able to identify individuals in the prodromal phase of X-linked Dystonia-Parkinsonism
Objective: To identify subclinical changes of balance and gait in patients with X-linked dystonia-parkinsonism (XDP) and non-manifesting carriers of the XDP-causing mutation. Background: XDP is…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Movement disorders in a family carrying ATP7A variant
Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a…Epidemiology of Huntington’s Disease (HD) in the US Medicaid Population
Objective: To estimate the current prevalence of Huntington’s disease (HD) among Medicaid beneficiaries in the United States (US). Background: HD is a genetic, progressive, neurodegenerative…Healthcare Utilization and Cost Burden at the End-of-Life Among Medicare Beneficiaries with Huntington’s Disease
Objective: To examine healthcare utilization (HCU) and costs occurring at the end of life among deceased Medicare beneficiaries who were diagnosed with Huntington’s disease (HD).…Longitudinal dynamics of mutant huntingtin and neurofilament light in Huntington’s disease: the prospective HD-CSF study
Objective: To present the mutant huntingtin (mHTT) and neurofilament light (NfL) findings from the two-year prospective longitudinal HD-CSF study, in which an 80-participant cohort of…Variants in the saposin D domain of prosaposin gene are linked to Parkinson’s disease
Objective: To investigate whether the variants of prosaposin can be linked to Parkinson's disease (PD) [1]. Background: Recent growing investigations have promoted the evidence of…Clinical and genetic profile of Familial Parkinson´s disease in Cali – Colombia
Objective: This study aims to describe the genetic and clinical profile of 32 subjects with familial PD using NGS genetic panel and eMotion software system…
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