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The University of Southampton
BRAIN UK

Lay Summaries of studies supported by BRAIN UK by category: Genetic Disorders

 BRAIN UK Study RefLay SummaryProject Status
 11/006 Comparative study of the neuropathology in Huntington’s disease brains Closed
 12/006 The impact of mitochondrial DNA mutations on substantia nigra neurons Active
 13/011 DNA polymorphisms in mental illness (DPIM) Closed
 15/002 Investigating cortical development in Trisomy 21 Closed
 15/008 Investigating the role of Astrocytes and Microglia in the development of Alzheimer's Disease in Down Syndrome Active
 16/001 Investigation of the role of the c-MET proto-oncogene and the PI3K/AKT/mTOR pathway in brain metastasis. Active
 16/002 Multi-platform analysis of TSC Subependymal Giant Cell Astrocytoma (SEGA) to identify novel therapeutic approaches. Active
 16/012 DNA/RNA instability in spinal muscular atrophy Active
 17/011 Tau and A2AR expression in Alexander’s disease Active
 18/007 Charcot-Marie-Tooth Disease and related disorders: A Natural History Study Active
 18/011 Investigation of cerebellar ataxia Closed
 19/008 C1q in Huntington’s disease Closed
 19/014 PURA syndrome patient tissue sample banking for histopathological and molecular analysis Active
 19/019 Social Neuropeptide Dysfunction in Fragile X Syndrome Closed
 20/003 Cellular and genetic pathomechanisms of central pontine myelinolysis Active

 

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