Association between repeat sizes and clinical and pathological characteristics in carriers of <ce:italic>C9ORF72</ce:italic> repeat expansions (Xpansize-72): a cross-sectional cohort study

@article{Blitterswijk2013AssociationBR,
  title={Association between repeat sizes and clinical and pathological characteristics in carriers of <ce:italic>C9ORF72</ce:italic> repeat expansions (Xpansize-72): a cross-sectional cohort study},
  author={Marka van Blitterswijk and Mariely Dejesus-Hernandez and Ellis Niemantsverdriet and Melissa E. Murray and Rosa Rademakers},
  journal={The Lancet Neurology},
  year={2013},
  volume={12},
  pages={978-988}
}
BACKGROUND Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are the most common known genetic cause of frontotemporal dementia (FTD) and motor neuron disease (MND). We assessed whether expansion size is associated with disease severity or phenotype. METHODS We did a cross-sectional Southern blot characterisation study (Xpansize-72) in a cohort of individuals with FTD, MND, both these diseases, or no clinical phenotype. All participants had GGGGCC repeat… CONTINUE READING
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