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A Rare Motor Neuron Deleterious Missense Mutation in the<i>DPYSL3</i>(<i>CRMP4</i>) Gene is Associated with ALS

8 Apr 2013

Abstract excerpt

The dihydropyrimidinase-like 3 (DPYSL3) or Collapsin Response Mediator Protein 4a (CRMP4a) expression is modified in neurodegeneration and is involved in several ALS-associated pathways including axonal transport, glutamate excitotoxicity, and oxidative stress. The objective of the study was to analyze CRMP4 as a risk factor for ALS. We analyzed the DPYSL3/CRMP4 gene in French ALS patients (n = 468) and...

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PMID: 23568759
DOI: 10.1002/humu.22329

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