CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquitinated protein aggregates, of which TDP-43 is a major component, are a characteristic pathological fe...

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Publié dans:Nat Commun
Auteurs principaux: Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4835537/
https://ncbi.nlm.nih.gov/pubmed/27080313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms11253
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