Article
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.
Neurology - 28 Aug 2012
van Rheenen Wouter, van Blitterswijk Marka, Huisman Mark H B, Vlam Lotte, van Doormaal Perry T C, Seelen Meinie, Medic Jelena, Dooijes Dennis, de Visser Marianne, van der Kooi Anneke J, Raaphorst Joost, Schelhaas Helenius J, van der Pol W Ludo, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
OBJECTIVE: To assess the frequency and phenotype of hexanucleotide repeat expansions in C9ORF72 in a large cohort of patients of Dutch descent with familial (fALS) and sporadic (sALS) amyotrophic lateral sclerosis (ALS), progressive muscular atrophy (PMA), and primary lateral sclerosis (PLS). METHODS: Included were 78 patients with fALS, 1,422 with sALS, 246 with PMA, and 110 with PLS, and 768 control subjects....
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