A Korean first case of Boucher-Neuhäuser syndrome with two novel mutations of PNPLA6 gene
Objective: To report a patient who presented with hypogonadotropic hypogonadism, chorioretinal dystrophy, and cerebellar ataxia. He has 2 missense variant mutations of PNPLA6. Background: Boucher-Neuhäuser…Longitudinal Utility of the Montreal Cognitive Assessment and Mini Mental State Exam in Huntington’s disease (HD)
Objective: Neuropsychological assessments are useful tools for examining and tracking cognitive impairment in individuals with neurological disorders; however, a full neuropsychological battery is not realistic…The genetic study of hereditary chorea in Kazakhstan
Objective: To analyze the genetic background of hereditary chorea in Kazakhstani population. Background: Hereditary chorea (HC) is a group of inherited movement disorders presenting with…Biological and Clinical Manifestations of Huntington’s disease in Gene Carriers Very Far from Predicted Onset: The Young Adult Study
Objective: To perform a deep phenotyping of a Huntington’s Disease (HD) cohort further from onset than previously studied to establish when disease related markers first…MRI findings in a 65-year old female with movement disorder
Objective: We reported a 65-year-old woman presented with dysarthria, chorea, facial and neck dystonia. Background: Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration,…Gait and motion analysis in Progressive Supranuclear Palsy
Objective: Evaluate gait abnormalities in progressive supranuclear palsy (PSP) with three-dimensional motion analysis. Background: PSP is associated with complex, disabling gait and balance abnormalities that…Navigating therapeutic landscapes with Parkinson’s disease in a scarce biomedical healthcare setting: the case of Kenya
Objective: To explore how people with Parkinson’s disease (PWPD) living in Kenya manage and negotiate their treatment and care within a scarce and overwhelmed biomedical…Using of GcMAF in patient from Uzbekistan with MS and a concomitant liver cirrhosis due to Hepatitis B
Objective: To study the effect of GcMAF on the general condition of patient, changes in motor activity and improvement of liver parameters after treatment. Background:…Patient experience interviews to inform a digital assessment of Parkinson’s disease
Objective: The aim of this study is to generate a conceptual framework that maps patient-relevant functional limitations to behavioral measures that can be captured with…Sex Moderates the Effects of Neurofibrillary Tangles on Cognition for Diffuse Lewy Body Pathology
Objective: To evaluate (1) the association between neurofibrillary tangle staging and cognition for participants with diffuse Lewy Body (LB) pathology, (2) whether this association differs…
- « Previous Page
- 1
- …
- 73
- 74
- 75
- 76
- 77
- …
- 149
- Next Page »