학술논문
Theme 02 - Genetics and Genomics.
Document Type
Article
Author
Source
Subject
*GENETICS
*AMYOTROPHIC lateral sclerosis
*GENOMICS
*NICOTINIC acetylcholine receptors
*NEUROTROPHIN receptors
*MEDICAL genetics
*FAMILIAL spastic paraplegia
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*
*
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Language
ISSN
2167-8421
Abstract
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. 1996; 47 (2): 535 - 40. 33 Okada Y, Yamazaki H, Sekine-Aizawa Y, Hirokawa N. The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. [Extracted from the article]