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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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Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Research group:
Prof. Kevin Talbot, Prof. Dame Kay E. Davies, Dr. M. Zameel Cader
Oxford college:
Hertford College
Role:
Author
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Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author

Contributors

Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Supervisor
Publication date:
2012
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
Oxford University, UK

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