http://rdf.ncbi.nlm.nih.gov/pubchem/patent/AU-2017277929-A1

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assignee http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_803023bbcbd1fcfd4f7ad657d38cae1a
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filingDate 2017-06-09-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_5b3d1df8c6b4b50a9628433283de9b34
publicationDate 2018-12-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber AU-2017277929-A1
titleOfInvention Methods for detecting structural variants in neurodegenerative disease
abstract Provided herein according to some embodiments is a method for detecting a short tandem repeat (STR) variant in the SOD1, TARDBP or C9orf72 gene region comprising measuring the length of the STR variant. In some embodiments, the method includes obtaining a biological sample containing genomic DNA from a subject, optionally isolating the genomic DNA from the sample. Also provided is a method for determining a diagnosis or a prognosis for a neurodegenerative disease, including: measuring a length of a short tandem repeat (STR) variant in the SOD1, TARDBP or C9orf72 gene region, and determining the diagnosis or prognosis based upon the length. Further provided is a method of treatment for a neurodegenerative disease including: administering a therapeutic agent to a subject based upon a length of a short tandem repeat (STR) variant in the SOD1, TARDBP or C9orf72 gene region in the subject. Also provided is a kit for detecting a (STR) variant in the SOD1, TARDBP or C9orf72 gene region.
priorityDate 2016-06-10-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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