SMN1 gene

Known as: SMNT, T-BCD541, SMA1 
This gene plays a role in assembly of small nuclear ribonucleoproteins.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2017
020406019842017

Papers overview

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Highly Cited
2011
Highly Cited
2011
Spinal muscular atrophy (SMA) is the most common genetic disease leading to infant mortality. This neuromuscular disorder is… (More)
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Highly Cited
2006
Highly Cited
2006
Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene… (More)
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Highly Cited
2004
Highly Cited
2004
Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by the homozygous loss of the SMN1 gene… (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
2002
Highly Cited
2002
Spinal muscular atrophy (SMA) is a common autosomal recessive disorder in humans, caused by homozygous absence of the survival… (More)
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Highly Cited
2000
Highly Cited
2000
The survival motor neuron genes, SMN1 and SMN2, encode identical proteins; however, only homo- zygous loss of SMN1 correlates… (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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Highly Cited
1999
Highly Cited
1999
Problems with diagnosis and genetic counseling occur for patients with autosomal recessive proximal spinal muscular atrophy (SMA… (More)
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Highly Cited
1997
Highly Cited
1997
The survival motor neuron (SMN) transcript is encoded by two genes, SMNT and SMNC. The autosomal recessive proximal spinal… (More)
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