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… (More)
National Institutes of Health

Related topics

Related topics

19 relations
Amyotrophic Lateral SclerosisAtrial Septal DefectsAutosomal recessive inheritanceConnective and Soft Tissue
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Broader (4)

Anterior Horn Cell DiseaseNeuromuscular DiseasesSpinal Muscular Atrophies of Childhoodnervous system disorder

Papers overview

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Highly Cited
2009
Highly Cited
2009
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
Delivery of genes to the brain and spinal cord across the blood-brain barrier (BBB) has not yet been achieved. Here we show that… (More)
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Highly Cited
2009
Highly Cited
2009
Induced pluripotent stem cells from a spinal muscular atrophy patient
Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients… (More)
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Highly Cited
2008
Highly Cited
2008
SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing
The survival of motor neurons (SMN) protein is essential for the biogenesis of small nuclear RNA (snRNA)-ribonucleoproteins… (More)
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Highly Cited
2002
Highly Cited
2002
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
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
2001
Highly Cited
2001
Feedback Inhibition of the Unfolded Protein Response by GADD34-Mediated Dephosphorylation of eIF2α
Phosphorylation of the alpha subunit of eukaryotic translation initiation factor 2 (eIF2alpha) on serine 51 integrates general… (More)
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Highly Cited
2000
Highly Cited
2000
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
Proximal spinal muscular atrophy (SMA) is a common motor neuron disease in humans and in its most severe form causes death by the… (More)
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Highly Cited
1999
Highly Cited
1999
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
SMN1 and SMN2 (survival motor neuron) encode identical proteins. A critical question is why only the homozygous loss of SMN1, and… (More)
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Highly Cited
1999
Highly Cited
1999
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor neurons in the spinal cord. It is caused by… (More)
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Highly Cited
1997
Highly Cited
1997
The survival motor neuron protein in spinal muscular atrophy.
The 38 kDa survival motor neuron (SMN) protein is encoded by two ubiquitously expressed genes: telomeric SMN (SMN(T)) and… (More)
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Highly Cited
1996
Highly Cited
1996
A novel nuclear structure containing the survival of motor neurons protein.
Spinal muscular atrophy (SMA) is a common, often fatal, autosomal recessive disease leading to progressive muscle wasting and… (More)
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