Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in...
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
About this item
Full title
Author / Creator
van Blitterswijk, Marka , Gendron, Tania F. , Baker, Matthew C. , DeJesus-Hernandez, Mariely , Finch, NiCole A. , Brown, Patricia H. , Daughrity, Lillian M. , Murray, Melissa E. , Heckman, Michael G. , Jiang, Jie , Lagier-Tourenne, Clotilde , Edbauer, Dieter , Cleveland, Don W. , Josephs, Keith A. , Parisi, Joseph E. , Knopman, David S. , Petersen, Ronald C. , Petrucelli, Leonard , Boeve, Bradley F. , Graff-Radford, Neill R. , Boylan, Kevin B. , 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
The loss of chromosome 9 open reading frame 72 (
C9ORF72
) expression, associated with
C9ORF72
repeat expansions, has not been examined systematically. Three
C9ORF7
2 transcript variants have been described thus far; the GGGGCC repeat is located between two non-coding exons (exon 1a and exon 1b) in the promoter region of transcrip...
Alternative Titles
Full title
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
Authors, Artists and Contributors
Author / Creator
Gendron, Tania F.
Baker, Matthew C.
DeJesus-Hernandez, Mariely
Finch, NiCole A.
Brown, Patricia H.
Daughrity, Lillian M.
Murray, Melissa E.
Heckman, Michael G.
Jiang, Jie
Lagier-Tourenne, Clotilde
Edbauer, Dieter
Cleveland, Don W.
Josephs, Keith A.
Parisi, Joseph E.
Knopman, David S.
Petersen, Ronald C.
Petrucelli, Leonard
Boeve, Bradley F.
Graff-Radford, Neill R.
Boylan, Kevin B.
Dickson, Dennis W.
Rademakers, Rosa
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4655160
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4655160
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-015-1480-6
