Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

February 6, 2020

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

May 3, 2018

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Identification of the ALS4 Gene Mutation: June 2004

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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

May 3, 2018

SETX ALS4 mice thus recapitulated ALS disease phenotypes in association with TDP-43 mislocalization and
provided insight into the basis for TDP-43 histopathology, linking SETX dysfunction to common pathways of ALS motor neuron degeneration.

You can read the full paper here: https://doi.org/10.1007/s00401-018-1852-9

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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

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