HEXANUCLEOTIDE REPEAT EXPANSION IN C9ORF72: A POTENTIAL GAME CHANGER FOR THE UNDERSTANDING OF ALS

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disorder of motor neurons in the cortex, brainstem and spinal cord, for which there is no cure.  The pathophysiological mechanisms underlying ALS remain to be fully elucidated, although approximately 10% of cases were previously regarded as familial.  Mutations in the superoxide dismuate-1 gene (SOD-1) were first reported […]

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