TY - JOUR
T1 - Spinal muscular atrophy: going beyond the motor neuron
AU - Hamilton, Gillian
AU - Gillingwater, Thomas
N1 - Publisher version not permitted in repositories set to back end vis. ET 30-11-15
Changed to article from lit review ET 15/6/20
PY - 2013/1
Y1 - 2013/1
N2 - Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were thought to cause the selective death of lower motor neurons, leading to denervation and atrophy of skeletal muscles. However, numerous recent studies challenge the notion that SMA is solely a disease of lower motor neurons, indicating that SMA may actually be a multi-system disorder.
AB - Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were thought to cause the selective death of lower motor neurons, leading to denervation and atrophy of skeletal muscles. However, numerous recent studies challenge the notion that SMA is solely a disease of lower motor neurons, indicating that SMA may actually be a multi-system disorder.
KW - spinal muscular atrophy
KW - neuromuscular disease
KW - motor neurons
U2 - 10.1016/j.molmed.2012.11.002
DO - 10.1016/j.molmed.2012.11.002
M3 - Article
VL - 19
SP - 40
EP - 50
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
SN - 1471-4914
IS - 1
ER -