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SCFD1 in Amyotrophic Lateral Sclerosis: Reconciling a Genetic Association with in Vivo Functional Analysis.

Neural regeneration research(2023)

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摘要
>Amyotrophic lateral sclerosis(ALS) is a neurodegenerative disease characterized by progressive loss of upper and lower motor neurons,resulting in muscle weakness and spasticity,eventually leading to death due to respiratory failure.Analyses by our group of a casecontrol cohort from an isolated island population have found that genetics plays a significant role in disease etiology(Farrugia Wismayer et al.,2023).
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Genetics
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