Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Expansions of the non-coding GGGGCC hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene were recently identified as the long sought-after cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) on chromosome 9p. In this study we aimed to determine wh...

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Hlavní autoři: Rutherford, Nicola J., Heckman, Michael G., DeJesus-Hernandez, Mariely, Baker, Matt C., Soto-Ortolaza, Alexandra I., Rayaprolu, Sruti, Stewart, Heather, Finger, Elizabeth, Volkening, Kathryn, Seeley, William W., Hatanpaa, Kimmo J., Lomen-Hoerth, Catherine, Kertesz, Andrew, Bigio, Eileen H., Lippa, Carol, Knopman, David S., Kretzschmar, Hans A., Neumann, Manuela, Caselli, Richard J., White, Charles L., Mackenzie, Ian R., Petersen, Ronald C., Strong, Michael J., Miller, Bruce L., Boeve, Bradley F., Uitti, Ryan J., Boylan, Kevin, Wszolek, Zbigniew K., Graff-Radford, Neill R., Dickson, Dennis W., Ross, Owen A., Rademakers, Rosa
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617405/
https://ncbi.nlm.nih.gov/pubmed/22840558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2012.07.005
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