Thesis
Model systems for exploring new therapeutic interventions and disease mechanisms in spinal muscular atrophies (SMAs)
- Abstract:
-
Spinal muscular atrophy (SMA) and Charcot-Marie-Tooth disease type 2D (CMT2D)/distal SMA type V (dSMAV) are two incurable neuromuscular disorders that predominantly manifest during childhood and adolescence. Both conditions are caused by mutations in widely and constitutively expressed genes that encode proteins with essential housekeeping functions, yet display specific lower motor neuron pathology. SMA results from recessive inactivating mutations in the survival motor neuron 1 (SM...
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Authors
Contributors
+ Talbot, K
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
+ Davies, K
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
Funding
Bibliographic Details
- Publication date:
- 2012
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- Oxford University, UK
Item Description
- Language:
- English
- Keywords:
- Subjects:
- UUID:
-
uuid:378416c5-a586-4a2a-980c-81dfff6803df
- Local pid:
- ora:7309
- Deposit date:
- 2013-09-16
Terms of use
- Copyright holder:
- James Nicholas Sleigh
- Copyright date:
- 2012
- Notes:
- This thesis is not currently available via ORA.
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