Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar d...
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
About this item
Full title
Author / Creator
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 C. , Boylan, Kevin B. , Boeve, Bradley F. , Graff-Radford, Neill R. , Veltman, Joris A. , Gilissen, Christian , Murray, Melissa E. , Dickson, Dennis W. and Rademakers, Rosa
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
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 of FTLD-TDP; however, the genetic e...
Alternative Titles
Full title
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
Authors, Artists and Contributors
Author / Creator
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 C.
Boylan, Kevin B.
Boeve, Bradley F.
Graff-Radford, Neill R.
Veltman, Joris A.
Gilissen, Christian
Murray, Melissa E.
Dickson, Dennis W.
Rademakers, Rosa
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4470809
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4470809
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-015-1436-x
