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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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Authors


Contributors

Role:
Supervisor
Role:
Supervisor
Institution:
University of Oxford
Research group:
Prof. Kevin Talbot, Prof. Dame Kay E. Davies, Dr. M. Zameel Cader
Oxford college:
Hertford College
Department:
Medical Sciences Division - Physiology,Anatomy and Genetics,Department of
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Funding agency for:
James N. Sleigh
Publication date:
2012
Type of award:
DPhil
Level of award:
Doctoral
Awarding institution:
Oxford University, UK
URN:
uuid:378416c5-a586-4a2a-980c-81dfff6803df
Local pid:
ora:7309

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