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C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal.

Cláudia Santos SilvaMarta GormichoSara SimãoAna Catarina Pronto-LaborinhoInês AlvesSusana PintoMiguel Oliveira SantosMamede de Carvalho
Published in: Journal of the neurological sciences (2024)
Our study corroborates most previous cohorts' findings, but harbours some singularities regarding onset site, phenotype, and cognitive profile, that contribute to a better understanding of C9RE epidemiology.
Keyphrases
  • risk factors
  • genome wide
  • gene expression