𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

✍ Scribed by Kang, Peter B.; Gooch, Clifton L.; McDermott, Michael P.; Darras, Basil T.; Finkel, Richard S.; Yang, Michele L.; Sproule, Douglas M.; Chung, Wendy K.; Kaufmann, Petra; de Vivo, Darryl C.

Book ID
120637432
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
955 KB
Volume
49
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

An update of the mutation spectrum of th
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
✍ Brunhilde Wirth πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 257 KB πŸ‘ 2 views

Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g

Is spinal muscular atrophy the result of
Is spinal muscular atrophy the result of defects in motor neuron processes?
✍ Michael Briese; Behrooz Esmaeili; David B. Sattelle πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 328 KB πŸ‘ 1 views

## Abstract The hereditary neurodegenerative disease spinal muscular atrophy (SMA) with childhood onset is one of the most common genetic causes of infant mortality. The disease is characterized by selective loss of spinal cord motor neurons leading to muscle atrophy and is the result of mutations