Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

Frontotemporal lobar degeneration with TAR DNA binding protein 43 inclusions (FTLD-TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) and mutations in progranulin (GRN) are the major known genetic causes...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Acta Neuropathol
Egile Nagusiak: Pottier, Cyril, Bieniek, Kevin F., Finch, NiCole, van de Vorst, Maartje, Baker, Matt, Perkersen, Ralph, Brown, Patricia, Ravenscroft, Thomas, van Blitterswijk, Marka, Nicholson, Alexandra M., DeTure, Michael, Knopman, David S., Josephs, Keith A., Parisi, Joseph E., Petersen, Ronald, Boylan, Kevin B., Boeve, Bradley F., Graff-Radford, Neill R., Veltman, Joris A., Gilissen, Christian, Murray, Melissa, Dicksonand, Dennis W., Rademakers, Rosa
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4470809/
https://ncbi.nlm.nih.gov/pubmed/25943890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-015-1436-x
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak