Cost of Predictive Genetic Testing for Huntington’s Disease at Centers of Excellence in the US
Objective: To characterize the cost of Huntington’s disease predictive genetic testing at Centers of Excellence in the US. Background: Despite the availability of predictive genetic…Spinal Excitability and Plasticity in Hereditary Spastic Paraparesis: A Neurophysiological Study
Objective: To investigate spinal excitability and plasticity in patients with pure hereditary spastic paraparesis (HSP). Background: Pure HSP (SPG4) is a neurodegenerative disorder characterized by…EIF4G1 gene variants in a family affected by Parkinson´s disease
Objective: Describe a novel mutation on a family affected by Parkinson´s disease. Background: 46 years old woman. She came to hospital complaining about tremor and…Genotypic and phenotypic spectrum of PINK-1 associated parkinsonism in 44 mutation carriers from 11 Tunisian families
Objective: To characterize the family history and clinical features of mutations of the PINK-1 gene in a cohort of Tunisian patients with Parkinson disease (P.D)…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…Profile of non motor symptoms in familial Parkinson’s disease
Objective: Non motor symptoms have a significant contribution to the quality of life of patients with Parkinson’s disease.The aim of the study was to assess the…
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