Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.

Rheenen W, van; Blitterswijk M, van; MH, Huisman; L, Vlam; Doormaal PT, van; M, Seelen; J, Medic; D, Dooijes; Visser M, de; der Kooi AJ, van; J, Raaphorst; HJ, Schelhaas; der Pol WL, van; JH, Veldink; den Berg LH, van

doi:10.1212/wnl.0b013e3182661d14

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Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.

Shared by NobleBlocks on Jul 25, 2012 • 12:00 AM UTC

Authors:

van Rheenen W

van Blitterswijk M

Huisman MH

Abstract

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 ...

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