Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF7...
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
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Author / Creator
van Blitterswijk, Marka, PhD , DeJesus-Hernandez, Mariely, BS , Niemantsverdriet, Ellis, BS , Murray, Melissa E, PhD , Heckman, Michael G, MS , Diehl, Nancy N, BS , Brown, Patricia H, MS , Baker, Matthew C, BSc , Finch, NiCole A, MS , Bauer, Peter O, PhD , Serrano, Geidy, PhD , Beach, Thomas G, Prof , Josephs, Keith A, Prof , Knopman, David S, Prof , Petersen, Ronald C, Prof , Boeve, Bradley F, Prof , Graff-Radford, Neill R, Prof , Boylan, Kevin B, MD , Petrucelli, Leonard, Prof , Dickson, Dennis W, Prof and Rademakers, Rosa, Dr
Publisher
England: Elsevier Ltd
Journal title
Language
English
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Publisher
England: Elsevier Ltd
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Contents
Summary Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 ( C9ORF72 ) are the most common known genetic cause of frontotemporal dementia (FTD) and motor neuron disease (MND). We assessed whether expansion size is associated with disease severity or phenotype. Methods We did a cross-sectional Southern blot characteris...
Alternative Titles
Full title
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
Authors, Artists and Contributors
Author / Creator
DeJesus-Hernandez, Mariely, BS
Niemantsverdriet, Ellis, BS
Murray, Melissa E, PhD
Heckman, Michael G, MS
Diehl, Nancy N, BS
Brown, Patricia H, MS
Baker, Matthew C, BSc
Finch, NiCole A, MS
Bauer, Peter O, PhD
Serrano, Geidy, PhD
Beach, Thomas G, Prof
Josephs, Keith A, Prof
Knopman, David S, Prof
Petersen, Ronald C, Prof
Boeve, Bradley F, Prof
Graff-Radford, Neill R, Prof
Boylan, Kevin B, MD
Petrucelli, Leonard, Prof
Dickson, Dennis W, Prof
Rademakers, Rosa, Dr
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1560103445
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1560103445
Other Identifiers
ISSN
1474-4422
E-ISSN
1474-4465
DOI
10.1016/S1474-4422(13)70210-2
