Case Report of a Brazilian Family With New VUS for PLAN
Objective: The aim is to describe a Brazilian family with new VUS of PLA2G6 in two brothers with clinical symptoms of PLAN. Background: PLAN is…Parkinson’s disease (PD) associated with the E46K mutation in the SNCA gene, twenty years after
Objective: To provide an updated overview of Parkinson’s disease (PD) associated with E46K mutation carriers in the SNCA gene 20 years after its description, incorporating…Leveraging Large-Scale Proteomics to Identify Protein Quantitative Trait Loci and Causal Effects on Parkinson’s Disease
Objective: Integrate proteomics from the cerebrospinal fluid (CSF) and urine from the Parkinson’s Progression Markers Initiative cohort to prioritize the risk variants associated with Parkinson’s…Can Heterozygous Autosomal Recessive Mutations Cause Neurological Disease?
Objective: To highlight the significance of heterozygous PLA2G6 and PRKN gene mutations in causing parkinsonism. Background: We report our observations in two families with multiple…Phenotypic characterization of an ATP13A2 knockout rat model of Parkinson’s disease
Objective: This project aimed to characterize the first-ever transgenic ATP13A2 knockout rat model to elucidate the underlying mechanisms of ATP13A2-associated pathology. Background: Most Parkinson’s disease…Perry Syndrome due to a DCTN1 novel variant
Objective: To report the clinical features of a patient with Perry syndrome (PS) due to a heterozygous novel pathogenic variant in the DCTN1 gene. Background:…Territorial inventory of training needs in nursing home for the support of patients with Parkinson’s syndrome
Objective: - Raise awareness among the various professionals in contact with patients suffering from Parkinson's syndromes- Optimize follow-up and support- Avoid emergency room visits through…Utility of Instrumented Timed Up and Go Test to Estimate Disease Severity in Huntington Disease.
Objective: To investigate the utility of Instrumented Timed Up and Go (TUG) test to estimate disease severity in people with Huntington Disease (PwHD). Background: Huntington…Patient Reported Outcomes of Using a Chaplain Service in a Huntington’s Disease Clinic
Objective: To better understand and describe the impact of providing spiritual care, in the form of a chaplain service, to patients being seen in a…Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…
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