SMN1 wt Allele

Known as: SMNT, Survival Motor Neuron 1 Protein Gene, Survival of Motor Neuron, Telomeric Copy Gene 
Human SMN1 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1968-2017
051019682017

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Highly Cited
2011
Highly Cited
2011
Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality; it results from loss… (More)
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Highly Cited
2009
Highly Cited
2009
Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. Most SMA cases are associated with the low levels… (More)
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Highly Cited
2009
Highly Cited
2009
Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced… (More)
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2007
2007
Spinal muscular atrophy (SMA) is a recessive motor neuron disease that affects motor neurons in the anterior horn of the spinal… (More)
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Highly Cited
2007
Highly Cited
2007
Homozygous deletion or mutation of the survival of motor neuron 1 gene (SMN1) causes spinal muscular atrophy. SMN1 has been… (More)
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Highly Cited
2004
Highly Cited
2004
To understand the contribution of the human presupplementary motor area (pre-SMA) in sequential motor behavior, we performed a… (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), the most common hereditary motor neuron disease in children and young adults is caused by… (More)
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Highly Cited
2001
Highly Cited
2001
Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the human survival of motor neuron 1 gene, SMN1. SMN… (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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