Potential treatment considerations for refractory REM behavior disorder
Objective: A meta-analysis of alternative treatment therapies for refractory REM behavior disorder. Background: Parkinson’s disease is a neurodegenerative syndrome that affects motor and non-motor functions.…Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
Objective: Identify by exome sequencing (ES) the underlying etiology of spastic ataxia and pseudo eye-of-the-tiger sign (EOT) in 4 siblings. Background: The EOT is a…Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…Fine-mapping of SNCA variants in REM sleep behavior disorder identifies distinct associations
Objective: a). Identify variants in the SNCA locus which affect risk for REM Sleep Behavior Disorder (RBD). b). Test variant effects on rate and type…Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
Objective: To facilitate access to Clinical Laboratory Improvement Amendments (CLIA)-approved genetic testing and improve communication of results to people with Parkinson's disease (PD) and their…Genetic markers revealed in dysregulated pathways in ischemic stroke may lead to Parkinson’s disease
Objective: To assess differential expression and gene set enrichment analysis to identify biological pathways associated with stroke and Parkinson’s disease (PD). Further, putative drug targets…SLC6A4 repeat and single-nucleotide polymorphisms are associated with depression and rest tremor in Parkinson’s disease
Objective: The objective of the current study was to determine whether the SLC6A4 polymorphisms were associated with key motor and non-motor symptoms of PD. Background:…Acquired (non-Wilsonian) hepatocerebral degeneration: case report
Objective: To present a case of the patient with acquired (non-Wilsonian) hepatocerebral degeneration (AHD). Background: AHD is a clinical syndrome which includes movement and cognitive…Hyperkinetic Movement Disorders in Congenital Disorders of Glycosylation
Objective: The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by Congenital Disorders of Glycosylation (CDG) and to characterize…Super-urgent liver transplantation for a 62 year old with Wilson’s disease presenting with acute liver failure
Objective: We describe an intriguing case of Wilson’s disease presenting with acute (fulminant) liver failure. Background: Wilson’s disease usually presents between the age of 5…
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