Juvenile Spinal Muscular Atrophy

Known as: Juvenile Muscular Atrophy, Spinal Muscular Atrophy, Type 3, Spinal Muscular Atrophy, Juvenile 
A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by α-motor neuron loss in the spinal cord anterior… (More)
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Review
2010
Review
2010
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile… (More)
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Review
2009
Review
2009
Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes. One such disorder, spinal muscular… (More)
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Highly Cited
2008
Highly Cited
2008
Spinal Muscular Atrophy (SMA), a recessive hereditary neurodegenerative disease in humans, has been linked to mutations in the… (More)
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Highly Cited
2004
Highly Cited
2004
Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons… (More)
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Highly Cited
1999
Highly Cited
1999
OBJECTIVE To test the hypothesis that MRI-based measurements of hippocampal volume are related to the risk of future conversion… (More)
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Highly Cited
1996
Highly Cited
1996
Hippocampal volumes of subjects with a history of major depressive episodes but currently in remission and with no known medical… (More)
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Highly Cited
1994
Highly Cited
1994
Hereditary dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable… (More)
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Highly Cited
1991
Highly Cited
1991
X-LINKED spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be… (More)
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Highly Cited
1980
Highly Cited
1980
Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis… (More)
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