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Spinal Muscular Atrophy

Known as: Spinal Amyotrophies, atrophy spinal muscular, Spinal Amyotrophy 
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually… Expand
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients… Expand
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Highly Cited
2003
Highly Cited
2003
Spinal muscular atrophy (SMA), a common autosomal recessive form of motoneuron disease in infants and young adults, is caused by… Expand
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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… Expand
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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… Expand
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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… Expand
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Highly Cited
1995
Highly Cited
1995
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons… Expand
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Highly Cited
1995
Highly Cited
1995
The spinal muscular atrophies (SMAs), characterized by spinal cord motor neuron depletion, are among the most common autosomal… Expand
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Review
1990
Review
1990
The central theme of the "segregated circuits" hypothesis is that structural convergence and functional integration occurs within… Expand
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Highly Cited
1974
Highly Cited
1974
An enzymatic method is described for determination of total serum cholesterol by use of a single aqueous reagent. The method… Expand
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Highly Cited
1936
Highly Cited
1936
EXPERIMENTS on rats show that if the organism is severely damaged by acute non-specific nocuous agents such as exposure to cold… Expand
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