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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Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Lippincott Williams & Wilkins 2013
Θέματα:
Article
Διαθέσιμο Online: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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