2019 International Congress » Genetics
Date: Monday, September 23, 2019
Time: 1:45pm-3:15pm
Location: Les Muses Terrace, Level 3
Meeting: 2019 International Congress
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A case report of Wilson Disease in a Kyrgyz teenager
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A family of Phospholipase A2-associated neurodegeneration presented as complicated hereditary spastic paraplegia
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A novel intronic variant in MAPT causes FTLD-parkinsonism: Implications for regulatory mechanism of MAPT pre-mRNA splicing
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Alpha-synuclein promoter (SNCA-Rep1) polymorphism is associated with non-motor symptoms in early Parkinson’s disease
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Assessing the response to Levodopa/carbidopa intestinal gel infusion based on genetic status
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Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
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BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews
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Dementia with Lewy bodies: GBA1 mutations are associated with cerebrospinal fluid alpha-synuclein profile
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Detection of genetic modifiers in PRKN
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Differential Gene Expression in Parkinson Disease and Chronic Traumatic Encephalopathy
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Effect of polygenic load on striatal dopaminergic deterioration in Parkinson’s disease
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Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations
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Fine-mapping of SNCA variants in REM sleep behavior disorder identifies distinct associations
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GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications
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GBA mutation: Linking Parkinson’s and Gaucher’s Diseases
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GBA p.Glu326Lys substitution increases the risk to develop Parkinson’s disease; is it enough to affect disease phenotype?
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Gene panel testing in movement disorders: an efficient approach highlighting overlaps and heterogeneity
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Genetic analysis of DNA methylation and hydroxymethylation genes in Parkinson’s disease
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Genetic markers revealed in dysregulated pathways in ischemic stroke may lead to Parkinson’s disease
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Genetic panel testing in Parkinson’s disease
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Genetic polymorphism (rs6971) in translocator protein (TSPO) and its clinical relevance in Parkinson’s disease
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Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality
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Identification of genetic alterations and SNCA mutation in Parkinson’s disease patients of Coimbatore Population, India
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Impact of Offering Genetic Testing and Counseling to People with Parkinson’s Disease in a Clinical Setting
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Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?
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Longitudinal CSF-profile and brain pathology mirrors clinical course of LRRK2-Related Parkinson’s Disease
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Longitudinal DNA methylation changes, in blood, associated with Parkinson’s disease progression
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Mechanism-based classification in PD cohorts
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Methylation status of SNCA gene in patients with Parkinson disease in Russian population
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Neurofascin is a novel gene associated with autosomal recessive spastic and polyneuropathy
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Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report
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Parkinson’s disease Polygenic Risk Factor Scores in Patients with Inflammatory Bowel Disease
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Screening of mutations in PARK2 gene and Dopamine levels in Parkinson’s disease (PD) patients in Coimbatore population, India
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Sequencing of single human nigral dopaminergic neurons for somatic copy number variants
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Serum MIR-96-5P and MIR-339-5P as a Potential Biomarker for Multiple System Atrophy and Parkinson’s Disease
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SLC6A4 repeat and single-nucleotide polymorphisms are associated with depression and rest tremor in Parkinson’s disease
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Spastic ataxia and pseudo eye-of-the-tiger sign in a familiy with a novel compound heterozygous AFG3L2 mutations
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Spastic Paraplegia Type 64: a Case Series
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Targeted deep sequencing of brain DNA for detection of somatic point mutations in synucleinopathies
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Targeted NGS of genes related to hereditary and sporadic NDDs and movement disorders in Italian cohort
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The longevity gene Klotho and its CSF protein profiles as modifier for Parkinson´s disease in a longitudinal study
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The role of X-chromosome inactivation in the penetrance of X-linked dystonia-parkinsonism in women
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Variants in the beta-Glucocerebrosidase A (GBA) gene in German patients with Parkinson´s disease
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WES analysis of Parkinson’s disease patients with Cancer