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Article

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

14 May 2020

Abstract excerpt

Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with phenotypic and genetic heterogeneity. Approximately 10% of cases are familial, while remaining cases are classified as sporadic. To date, >30 genes and several hundred genetic variants have been implicated in ALS. Methods Seven hundred and fifty-seven sporadic ALS cases were recruited from Australian neurology clinics....

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PMID: 32409511
DOI: 10.1136/jmedgenet-2020-106866

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