SMN2 gene

Known as: survival of motor neuron 2, centromeric, tudor domain containing 16B, SMNC 
This gene plays a role in the modulation of spliceosome formation.
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Increasing survival of motor neuron 2, centromeric (SMN2) exon 7 inclusion to express more full-length SMN protein in motor… (More)
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Highly Cited
2007
Highly Cited
2007
Several strategies have been pursued to increase the extent of exon 7 inclusion during splicing of SMN2 (survival of motor neuron… (More)
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Highly Cited
2005
Highly Cited
2005
Spinal muscular atrophy (SMA) is an autosomal recessive disorder in humans which results in the loss of motor neurons. It is… (More)
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Highly Cited
2003
Highly Cited
2003
Spinal muscular atrophy (SMA) is a relatively common neurodegenerative disease caused by homozygous loss of the survival motor… (More)
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Highly Cited
2003
Highly Cited
2003
The multiplicity of proteins compared with genes in mammals owes much to alternative splicing. Splicing signals are so subtle and… (More)
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Highly Cited
2002
Highly Cited
2002
Alteration of correct splicing patterns by disruption of an exonic splicing enhancer may be a frequent mechanism by which point… (More)
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Highly Cited
2001
Highly Cited
2001
The spinal muscular atrophy (SMA) region on chromosome 5q13 contains an inverted duplication of about 500 kb, and deleterious… (More)
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Highly Cited
2000
Highly Cited
2000
Proximal spinal muscular atrophy (SMA) is a common motor neuron disease in humans and in its most severe form causes death by the… (More)
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Highly Cited
1999
Highly Cited
1999
Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor neurons in the spinal cord. It is caused by… (More)
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Highly Cited
1999
Highly Cited
1999
SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and… (More)
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