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HMN (Hereditary Motor Neuropathy) Proximal Type I

Known as: INFANTILE SPINAL MUSCULAR ATROPHY, Spinal Muscular Atrophy, Infantile, Type I Spinal Muscular Atrophy 
The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Spinal muscular atrophy is a monogenic, progressive motor neuron disorder caused by deletion or mutation in the SMN1 gene. A… Expand
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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
2009
Highly Cited
2009
Delivery of genes to the brain and spinal cord across the blood-brain barrier (BBB) has not yet been achieved. Here we show that… Expand
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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… 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
2001
Highly Cited
2001
Phosphorylation of the α subunit of eukaryotic translation initiation factor 2 (eIF2α) on serine 51 integrates general… 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
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… Expand
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Highly Cited
1996
Highly Cited
1996
Spinal muscular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and… Expand
Highly Cited
1994
Highly Cited
1994
Hereditary dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable… Expand