C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

OBJECTIVE: To identify potential genetic modifiers contributing to the phenotypic variability that is detected in patients with repeat expansions in chromosome 9 open reading frame 72 (C9ORF72), we investigated the frequency of these expansions in a cohort of 334 subjects previously found to carry m...

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Detaylı Bibliyografya
Asıl Yazarlar: van Blitterswijk, Marka, Baker, Matthew C., DeJesus-Hernandez, Mariely, Ghidoni, Roberta, Benussi, Luisa, Finger, Elizabeth, Hsiung, Ging-Yuek R., Kelley, Brendan J., Murray, Melissa E., Rutherford, Nicola J., Brown, Patricia E., Ravenscroft, Thomas, Mullen, Bianca, Ash, Peter E.A., Bieniek, Kevin F., Hatanpaa, Kimmo J., Karydas, Anna, Wood, Elisabeth McCarty, Coppola, Giovanni, Bigio, Eileen H., Lippa, Carol, Strong, Michael J., Beach, Thomas G., Knopman, David S., Huey, Edward D., Mesulam, Marsel, Bird, Thomas, White, Charles L., Kertesz, Andrew, Geschwind, Dan H., Van Deerlin, Vivianna M., Petersen, Ronald C., Binetti, Giuliano, Miller, Bruce L., Petrucelli, Leonard, Wszolek, Zbigniew K., Boylan, Kevin B., Graff-Radford, Neill R., Mackenzie, Ian R., Boeve, Bradley F., Dickson, Dennis W., Rademakers, Rosa
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3806926/
https://ncbi.nlm.nih.gov/pubmed/24027057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a8250c
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