|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> 5q spinal muscular atrophy (SMA) is an autosomal recessive lower motoneuron disease caused by deletion or mutations in the survival motor neuron 1 gene (<i>SMN1</i>) which results in reduced expression of full-length SMN protein.
|
31736847 |
2019 |
|
Spinal Muscular Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
<i>PLS3</i> coadministration improves the phenotype beyond the ASO, demonstrating the potential utility of combinatorial therapeutics in SMA that target SMN-independent and SMN-dependent pathways.
|
28289706 |
2017 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
1634-1644) show that ASOs directed against an intron splice silencer (ISS) in the survival motor neuron 2 (SMN2) gene alter the amount of full-length SMN transcript in the nervous system, restoring SMN to levels that could correct spinal muscular atrophy (SMA).
|
20679391 |
2010 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) results from mutations of the survival motor neuron (SMN) gene on chromosome 5.
|
11274309 |
2001 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) results from mutations of the Survival Motor Neuron (SMN) gene.
|
12642665 |
2003 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular atrophy (SMA) Type I is a fatal autosomal recessive disease caused by homozygous deletion of telometric region of exon 7/8 of the SMN gene.
|
12768044 |
2003 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
SMA is caused by low levels of the ubiquitously expressed survival motor neuron (Smn) protein.
|
12952942 |
2003 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motoneuron disease caused by reduced levels of survival motoneuron (SMN) protein.
|
16204184 |
2005 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy: position and functional importance of the branch site preceding SMN exon 7.
|
17585203 |
2007 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy is caused by reduced levels of the survival of motor neurons (SMN) protein.
|
17640370 |
2007 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein.
|
17895963 |
2007 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by reduced levels of the survival of motor neuron (SMN) protein.
|
18093976 |
2008 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by reduced levels of survival motor neuron (SMN) protein.
|
18603534 |
2008 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal Muscular Atrophy (SMA), a recessive hereditary neurodegenerative disease in humans, has been linked to mutations in the survival motor neuron (SMN) gene.
|
18791638 |
2008 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.
|
19378506 |
2009 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encoding survival of motor neuron (SMN) protein, resulting in the selective loss of alpha-motor neurons.
|
19535574 |
2009 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SMA is cause by mutations in the survival motor neuron (SMN) gene.
|
19758605 |
2009 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory failure.
|
20085811 |
2010 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is caused by homozygous survival of motor neurons 1 (SMN1) gene deletions, leaving a duplicate gene, SMN2, as the sole source of SMN protein.
|
20194437 |
2010 |
|
Spinal Muscular Atrophy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinal Muscular Atrophy (SMA) is caused by diminished function of the Survival of Motor Neuron (SMN) protein, but the molecular pathways critical for SMA pathology remain elusive.
|
21124729 |
2010 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein.
|
21325354 |
2011 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by a deficiency of functional SMN protein because of mutations in SMN1.
|
21334976 |
2011 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene.
|
21785213 |
2011 |
|
Spinal Muscular Atrophy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein.
|
21920940 |
2011 |
|
Spinal Muscular Atrophy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient amounts of survival motor neuron (SMN) protein.
|
22393244 |
2012 |