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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Survival motor neuron (SMN) performs an essential role in the maturation of snRNPs, while the homozygous loss of SMN1 results in the development of spinal muscular atrophy (SMA), a devastating neurodegenerative disease.
|
21957043 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease that affects alpha motoneurons in the spinal cord caused by homozygous deletion or specific mutations in the survival motoneuron-1 (SMN1) gene.
|
22197680 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA), a neurodegenerative disease, is the leading genetic cause of infantile death and is caused by the loss of survival motor neuron 1 (SMN1).
|
21826391 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In this manuscript, we show splicing of the human SMN1 and SMN2 mini-genes in porcine cells is consistent with splicing in human cells, and we report the first genetic knockout of a gene responsible for a neurodegenerative disease in a large animal model using gene targeting with single-stranded DNA and somatic cell nuclear transfer.
|
21350916 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease resulting from decreased levels of survival motor neuron 1 (SMN1) protein.
|
21681521 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein.
|
21920940 |
2011 |
|
Neurodegenerative Disorders
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Proximal spinal muscular atrophy (SMA) is a neurodegenerative disease caused by low levels of the survival motor neuron (SMN) protein.
|
20705738 |
2010 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast to other neurodegenerative disorders, SMA is a genetically homozygous autosomal recessive disease that is caused by deficiency of the survival motor neuron (SMN) protein.
|
20581815 |
2010 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons.
|
19351384 |
2009 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Autosomal recessive proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder resulting from functional loss of survival motor neuron 1 (SMN1).
|
18172693 |
2008 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The neurodegenerative disease spinal muscular atrophy is caused by mutation of the survival motor neuron 1 (SMN1) gene.
|
17307868 |
2007 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disorder resulting from homozygous loss of the SMN1 gene.
|
14715275 |
2004 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by deletion and/or mutation of the survival motor neuron protein Gene (SMN1) that results in the expression of a truncated protein lacking the C terminal exon-7.
|
12878704 |
2003 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a relatively common neurodegenerative disease caused by homozygous loss of the survival motor neuron 1 (SMN1) gene.
|
12833158 |
2003 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The survival of motor neurons protein (SMN), the product of the neurodegenerative disease spinal muscular atrophy (SMA) gene, functions as an assembly factor for snRNPs and likely other RNPs.
|
11389857 |
2001 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous mutations of the survival motor neuron gene 1 (SMN1).
|
11153908 |
2000 |
|
Neurodegenerative Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
The survival of motor neurons (SMN) protein, the product of the neurodegenerative disease spinal muscular atrophy (SMA) gene, is localized both in the cytoplasm and in discrete nuclear bodies called gems.
|
10725331 |
2000 |