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Repeat expansion disease: progress and puzzles in disease pathogenesis

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Year: 2010
Type: review
Source: Nature Reviews Genetics
DOI: 10.1038/nrg2748
Authors: Albert R. La Spada, J. Paul Taylor
Institutions: University of California San Diego, Rady Children's Hospital-San Diego, St. Jude Children's Research Hospital
Language: English

Topic: Genetic Neurodegenerative Diseases
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green

Funders: National Institute on Aging, National Eye Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke
Awards: HDAC6 and the intersection between the UPS, autophagy, and neurodegeneration, Pathways of Neurodegeneration in SBMA, The PPAR-delta pathway in neural function and Huntington's disease neuropathology, CCCTC-binding factor (CTCF) in trinucleotide repeat instability and disease, MODELS OF SBMA MOTOR NEURON DEGENERATION, SCA7 neurodegeneration: Molecular epigenetic basis and therapy
OpenAlex ID: W1965975446
FWCI: 2.727
Cites: 139
Cited by: 500
Related to: 10
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