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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 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The reduced level of survival motor neuron (SMN) protein, caused by homozygous deletions in the SMN gene, led to a common neurodegenerative disorder known as spinal muscular atrophy (SMA).
|
26331341 |
2016 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) results from low levels of survival motor neuron (SMN) protein; however, it is unclear how reduced SMN promotes SMA development.
|
24590288 |
2014 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disorder, which is caused by mutations of the survival motor neuron 1 (SMN1) gene.
|
23352792 |
2013 |
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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 |
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Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The childhood neurodegenerative disease spinal muscular atrophy (SMA) is caused by loss-of-function mutations or deletions in the Survival Motor Neuron 1 (SMN1) gene resulting in insufficient levels of survival motor neuron (SMN) protein.
|
28069797 |
2017 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is primarily a neurodegenerative disease caused by the homozygous deletion of the survival motor neuron 1 (SMN1) gene, thereby reducing SMN protein expression.
|
29209912 |
2018 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Loss of Survival Motor Neuron-1 (SMN1) causes Spinal Muscular Atrophy, a devastating neurodegenerative disease.
|
27401142 |
2016 |
|
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 |
Mutation of the Survival Motor Neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), an autosomal recessive neurodegenerative disorder that occurs in early childhood.
|
26423457 |
2015 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the ubiquitously expressed SMN protein.
|
22330725 |
2012 |
|
Neurodegenerative Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant efforts have been made to reveal the molecular functions of this ubiquitously expressed protein.
|
29872871 |
2018 |
|
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 |
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), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein.
|
21920940 |
2011 |
|
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 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) is a neurodegenerative disorder that results from mutations in the SMN1 gene, leading to survival motor neuron (SMN) protein deficiency.
|
29103974 |
2017 |
|
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 |
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 |
The survival motor neuron (SMN) protein is key to this biological paradigm: SMN is essential for the biogenesis of various RNPs that function in mRNA processing, and genetic mutations leading to SMN deficiency cause the neurodegenerative disease spinal muscular atrophy.
|
24769255 |
2014 |
|
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 |
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 |
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 |
Biomarker
|
group |
BEFREE |
A detailed molecular understanding of how motor neurons fail, and why other neurons do not, in SMA will yield important principals about motor neuron maintenance and neuronal specificity in neurodegenerative diseases.
|
29462610 |
2018 |