Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

The loss of chromosome 9 open reading frame 72 (C9ORF72) expression, associated with C9ORF72 repeat expansions, has not been examined systematically. Three C9ORF72 transcript variants have been described thus far; the GGGGCC repeat is located between two non-coding exons (exon 1a and exon 1b) in the...

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Gepubliceerd in:Acta Neuropathol
Hoofdauteurs: van Blitterswijk, Marka, Gendron, Tania F., Baker, Matthew C., DeJesus-Hernandez, Mariely, Finch, NiCole A., Brown, Patricia H., Daughrity, Lillian M., Murray, Melissa E., Heckman, Michael G., Jiang, Jie, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W., Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Petrucelli, Leonard, Boeve, Bradley F., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Rademakers, Rosa
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4655160/
https://ncbi.nlm.nih.gov/pubmed/26437865
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-015-1480-6
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