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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Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: Lippincott Williams & Wilkins 2013
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Article
גישה מקוונת: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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