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IBD analysis of Australian amyotrophic lateral sclerosis SOD1 -mutation carriers identifies five founder events and links sporadic cases to existing ALS families

2019-06-28

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the loss of upper and lower motor neurons resulting in paralysis and eventual death. Approximately 10% of ALS cases have a family history of disease, while the remaining cases present as apparently sporadic. Heritability studies suggest a significant genetic component to sporadic ALS, and although most sporadic cases have an unkno...

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Literature Corpus work: a0499ec0-850b-5109-af15-81daf31e84c7
DOI: 10.1101/685925

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IBD analysis of Australian amyotrophic lateral sclerosis <i>SOD1</i> -mutation carriers identifies five founder events and links sporadic cases to existing ALS families

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