The University of Manchester;National Institute on Aging;University College Cardiff Consultants Limited;VU University Medical Centre Amsterdam;UCL Business PLC;Hospital District of Helsinki and UUSIMA
发明人:
Stuart Pickering-Brown,Bryan Traynor,Andrew B. Singleton,Huw Morris,Peter Heutink,John Hardy,Pentti Tienari
申请号:
US15858282
公开号:
US20180187262A1
申请日:
2017.12.29
申请国别(地区):
US
年份:
2018
代理人:
摘要:
The present disclosure relates to methods of assessing whether a subject has or is likely to develop a neurodegenerative disease including determining whether the subject has a mutation in the C9orf72 gene, wherein said mutation prevents or disrupts C9orf72 expression relative to expression in a reference from subjects without the mutation.