Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis

Several families have been reported with autosomal dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here we report an expansion of a non-coding GGGGCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with dise...

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Main Authors: DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Boeve, Bradley F., Boxer, Adam L., Baker, Matt, Rutherford, Nicola J., Nicholson, Alexandra M., Finch, NiCole A., Gilmer, Heather Flynn, Adamson, Jennifer, Kouri, Naomi, Wojtas, Aleksandra, Sengdy, Pheth, Hsiung, Ging-Yuek R., Karydas, Anna, Seeley, William W., Josephs, Keith A., Coppola, Giovanni, Geschwind, Daniel H., Wszolek, Zbigniew K., Feldman, Howard, Knopman, David, Petersen, Ronald, Miller, Bruce L., Dickson, Dennis, Boylan, Kevin, Graff-Radford, Neill, Rademakers, Rosa
格式: Artigo
語言:Inglês
出版: 2011
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3202986/
https://ncbi.nlm.nih.gov/pubmed/21944778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neuron.2011.09.011
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