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TranscriptomicsCAGE-seq of human post-mortem brain tissue of the frontal lobe from patients with FTD and healthy controls
Understanding the molecular mechanisms underlying frontotemporal dementia (FTD) is essential for the development of successful therapies. Systematic studies on human post-mortem brain tissue of patients with genetic subtypes of FTD are currently lacking. The Risk and Modyfing Factors of Frontotempor...
ORGANISM(S): Homo sapiens 
2023-02-26 | E-MTAB-12646 | biostudies-arrayexpress
Genomics8f81ce09-cd65-468c-a27a-d4f4863b24c4 - samples
The data are the aggregate results from an IGPP Consortium genome-wide survival study, showing overall risk for Parkinson disease progression associated with each variant in a longitudinal cohort study. 11.2 million deeply imputed variants in 3,821 PD patients who were prospectively tracked with 36,...
EGAD00001007060 | EGA
Unknown17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes.
Not available
S-EPMC9284779 | biostudies-literature
GenomicsInternational Genetics of Parkinson Disease Progression (IGPP) Consortium GWAS Summary Results
To characterize how genetic variation influences the progression of Parkinson’s disease to dementia, which is a major determinant for quality of life, we performed a longitudinal genome-wide survival study (GWSS). Risk profile analysis was performed with a novel polygenic hazard score in longit...
EGAS00001005110 | EGA
GenomicsInternational Genetics of Parkinson Disease Progression (IGPP) Consortium GWSS Summary Results Data Access Committee
Data Access Committee EGAC00001002012
EGAC00001002012 | EGA
GenomicBRAINcode

BRAINCODE: How Does the Human Genome Function in Specific Brain Neurons? The human brain comprises about 86 billion neurons whose function is central to human biology. How does the human genome program high performing neurons and neural networks in response to experience? What subprograms ...

phs001556 | dbGaP
TranscriptomicsInvestigation of a patient with a partial 16q trisomy
A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, dysmorphic facies, and contractions of the small joints. In this paper, we describe a more detailed analysis of the genetic ...
ORGANISM(S): Homo sapiens 
2010-09-10 | E-GEOD-12741 | biostudies-arrayexpress
GenomicWhole Exome and Targeted Sequencing in Tourette Syndrome Multiplex Families

This study consists of 771 individuals from 15 extended, multi-generational Tourette Syndrome (TS) pedigrees collected by the Tourette Syndrome Association International Consortium for Genetics (TSAICG), 213 of whom are affected either with TS or its broader, genetically related phenotype, chroni...

phs000415 | dbGaP
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