Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

By P. Andersen, A. Al-Chalabi. Nature Reviews Neurology, 2011

709 citations recorded by the source corpus.

Subfields: Genetics, Neurology

View Paper: https://www.semanticscholar.org/paper/f5823e119a5a33502c8553706a050117698c027c

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Citations in the corpus

• The changing scene of amyotrophic lateral sclerosis (2013, background): “FIG4 is located in vacuolar membranes, regulates the phosphorylated state of PI(3,5)P2 and is essential for normal lysosome function41.”
• Superoxide dismutases: Dual roles in controlling ROS damage and regulating ROS signaling (2018, neutral): “Since then, >170 different mutations spread throughout the SOD1 gene have been described to result in ALS, and a general estimate is that SOD1 mutations account for ∼14–20% of familiar ALS and 1–3% of sporadic cases (Andersen and Al-Chalabi, 2011; Taylor et al., 2016).”