Dissecting the genetic complexity of Parkinson’s disease: a Parkin-GBA study
Objective: In this study, we investigate how the PD risk factor GBA would affect the cellular phenotypes associated with homozygous mutations in Parkin, causing an…Longitudinal DNA methylation changes, in blood, associated with Parkinson’s disease progression
Objective: To determine if whole blood DNA methylation profiles could distinguish Parkinson's disease from controls and whether any changes correlate with disease progression. Background: Parkinson’s…Methylation status of SNCA gene in patients with Parkinson disease in Russian population
Objective: To study methylation status of SNCA gene in patients with Parkinson disease in Russian population Background: The genetic background of Parkinson disease (PD) has…Genetic panel testing in Parkinson’s disease
Objective: To evaluate effectiveness of panel testing of known Parkinson's disease (PD) related genes in clinical practice. Background: It is widely recognised that monogenic forms…A case report of Wilson Disease in a Kyrgyz teenager
Objective: Information on the occurrence of WD in the Kyrgyz Republic is currently missing. However, based on previously received epidemiological data to the territories of…A novel p.Trp42Arg REEP1 mutation associated with autosomal recessive Distal spinal muscular atrophy with vocal cord and diaphragmatic paralysis
Objective: To present a patient with homozygous mutation in Receptor Expression-Enhancing Protein 1 (REEP1) gene manifesting a severe congenital Distal spinal muscular atrophy (SMA) with…Reverse phenotyping of a 3.3Mb loss of 8p11.21p11.1, including SLC20A2, lead to a diagnosis of primary familial brain calcification
Objective: To describe the clinical picture of a patient with a large deletion in band 8p11.21p11.1 including SLC20A2 and present a review of patients with a…The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report
Objective: To investigate the clinical features of Parkinson's disease caused by PLA2G6 gene mutation． Background: Early-onset Parkinsonism is a group of syndromes characterized by Parkinson's disease…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…Mechanism-based classification in PD cohorts
Objective: To stratify Parkinson’s disease (PD) patients based on key molecular mechanisms by using a genomic-based approach. Background: PD is a complex neurodegenerative disease involving…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.