Characterizing the Bcl-2 Associated Athanogene 5 Interactome
Objective: Characterizing the Bcl-2 Associated Athanogene 5 (BAG5) interactome will uncover the molecular pathways with which BAG5 associates and further elucidate its role in dopaminergic…Development of nano-formulation containing crocetin for the protective and beneficial effect against 6-hydroxydopamine induced Parkinson’s disease model via altered the genetic backgrounds
Objective: Parkinson’s disease (PD) induced by the interaction between the number of factors viz., aging, genetics toxins, mitochondrial deformity and oxidative stress. Various evidences suggest…Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…Antisense FMR1 splice variant and loss of AGG interruptions are predictors of Fragile X-associated tremor/ataxia syndrome (FXTAS)
Objective: To evaluate the role of splice patterns of the antisense FMR1 (ASFMR) gene in Fragile X-associated tremor/ataxia syndrome (FXTAS) Background: FXTAS is an inherited…Living with Ataxia in Ireland 2016–a nationwide survey of 130 Irish patients with inherited Ataxia
Objective: To collect real-life data from a large cohort of patients with inherited ataxia in Ireland, with special attention to the individual ataxia-related healthcare resources…Utility of ataxia gene panel testing in diagnosing inherited ataxia: evaluation of an Irish cohort
Objective: To evaluate the utility of gene panel testing in a population of patients with genetically undetermined ataxia attending the Irish National Ataxia clinic. Background:…Parkinson’s disease-associated Miro1 mutants cause mitochondrial dysfunction
Objective: In the present study we dissected the role of the first PD-associated mutations in RhoT1, the gene encoding for Miro1. Background: Commonly involved pathogenic…Spinocerebellar ataxia 17: First observation in Russia
Objective: To report the detection of the first case of spinocerebellar ataxia 17 in Russian population. Background: Autosomal dominant spinocerebellar ataxias (AD SCAs) are clinically…Communication and language skills in Huntington’s disease
Objective: To characterize the language and communication abilities of HD patients as reflected in tasks involving naming, verbal fluency, working memory and pragmatics. Background: Huntington's…Emotional facial EMG responses are affected in Huntington’s disease
Objective: The aim of this study was to investigate emotional facial muscle responses in Huntington's Disease (HD). We examined induced experience-related responses when viewing emotional…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.