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The functional analysis of rare genetic variants in a familial neurodegenerative spectrum disorder

Abstract:

Whole genome sequencing can enable an unbiased approach to the diagnosis and to the understanding of genetic aetiology of neurodegenerative diseases, which are a clinically and genetically heterogeneous group of disorders. Two brothers, originally diagnosed with primary progressive multiple sclerosis (PPMS), displayed an atypical disease progression over a 30-year period with a clinical picture of paresis, ataxia, mental impairment and dysarthria. Late stage fasciculations, absence of sen...

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Division:
MSD
Department:
Clinical Neurosciences
Role:
Author

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Role:
Supervisor
Role:
Supervisor
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
University of Oxford
Language:
English
Keywords:
UUID:
uuid:79b71fbc-487a-4309-a92b-b59324f438d3
Deposit date:
2019-01-14

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