A health cost analysis for Huntington disease in Peru
Objective: To estimate economic costs of caring for an individual with Huntington disease from the patients and caregivers perspective. Background: Huntington disease (HD) is a…Atypical parkinsonism in C9orf72 expansions: A case report and systematic review of 45 cases from the literature
Objective: To provide a systematic clinical characterisation of C9orf72-associated parkinsonism. Background: While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis…Preliminary results for a study on quality of life in Huntington’s disease patients and their caregivers in Peru
Objective: To quantitatively and qualitatively explore the determinants of quality of life (QOL) in Huntington's Disease (HD) patients and their caregivers in Peru. Background: HD…A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
Objective: This study includes the evaluation of a comprehensive spectrum of neurological features and the mutational screening of the SPG4/SPAST gene in patients with hereditary…No RAB39B gene mutations in Chinese familial Parkinson’s disease
Objective: To validate the susceptibility to familial PD patients caused by RAB39B in Chinese Han population. Background: Recently, RAB39B mutations c.503C>A and c.574G>A have been…Investigation into the genetic etiology in South African Parkinson’s disease patients
Objective: To investigate the genetic etiology in a group of South Africa Parkinson's disease (PD) patients. Background: The genetic etiology of PD is complex and…Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes
Objective: To determine the genetic background of hereditary atypical parkinsonism in an isolated region of the Czech Republic. Background: A higher prevalence of parkinsonism was…The Faroese Parkinson’s diseases research program-Multifactorial analyses of a complex syndrome
Objective: The program aim is to assess the contribution of genes and environment influencing susceptibility, progression and the relative contribution of risk factors underlying Parkinson's…
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