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

Related topics

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12 relations

Broader (5)

Anterior Horn Cell DiseaseMyelopathic Muscular AtrophyProgressive Muscular AtrophySpinal Muscular Atrophies of Childhood
(More)
Autosomal recessive inheritanceConnective and Soft TissueHMN (Hereditary Motor Neuropathy) Proximal Type IMuscle Cramp
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Papers overview

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Highly Cited
2012
Highly Cited
2012
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse.
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: mechanisms and therapeutic strategies.
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
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
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
Modeling Spinal Muscular Atrophy in Drosophila
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
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
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
Prediction of AD with MRI-based hippocampal volume in mild cognitive impairment.
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 atrophy in recurrent major depression.
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
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
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
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
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
Classification of spinal muscular atrophies.
Clinical heterogeneity within the spinal muscular atrophies (SMA) has long been a source of confusion for questions of prognosis… (More)
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