Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

BACKGROUND: Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are causative for frontotemporal dementia (FTD) and motor neuron disease (MND). Substantial phenotypic heterogeneity has been described in patients with these expansions. We set out to identify genetic modif...

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主要な著者: van Blitterswijk, Marka, Mullen, Bianca, Wojtas, Aleksandra, Heckman, Michael G, Diehl, Nancy N, Baker, Matthew C, DeJesus-Hernandez, Mariely, Brown, Patricia H, Murray, Melissa E, Hsiung, Ging-Yuek R, Stewart, Heather, Karydas, Anna M, Finger, Elizabeth, Kertesz, Andrew, Bigio, Eileen H, Weintraub, Sandra, Mesulam, Marsel, Hatanpaa, Kimmo J, White, Charles L, Neumann, Manuela, Strong, Michael J, Beach, Thomas G, Wszolek, Zbigniew K, Lippa, Carol, Caselli, Richard, Petrucelli, Leonard, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Mackenzie, Ian R, Seeley, William W, Grinberg, Lea T, Miller, Bruce L, Boylan, Kevin B, Graff-Radford, Neill R, Boeve, Bradley F, Dickson, Dennis W, Rademakers, Rosa
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2014
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190282/
https://ncbi.nlm.nih.gov/pubmed/25239657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1326-9-38
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