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Hereditary Autosomal Dominant Spastic Paraplegia

Known as: Peroneal Muscular Atrophy with Pyramidal Features, Autosomal Dominant, Autosomal Dominant Hereditary Spastic Paraplegia, CHARCOT-MARIE-TOOTH NEUROPATHY WITH PYRAMIDAL FEATURES, AUTOSOMAL DOMINANT 
 
National Institutes of Health

Papers overview

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2014
2014
In nanoindentation, especially at very low indenter displacements, the indenter/material contact area must be defined in the best… Expand
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2012
2012
Mutations in the Sonic hedgehog limb enhancer, the zone of polarizing activity regulatory sequence (ZRS, located within the gene… Expand
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2008
2008
Mutations in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia (ADHSP). To date, little is known about the… Expand
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2005
2005
Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal… Expand
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Highly Cited
2004
Highly Cited
2004
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders… Expand
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the SPG4 gene, which encodes… Expand
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2003
2003
Mutations in the SPG3A gene encoding the novel GTPase atlastin have recently been implicated in causing autosomal dominant… Expand
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Highly Cited
2002
Highly Cited
2002
The authors report on a novel frameshift mutation (c.1688insA) in the SPG3A gene resulting in premature translation termination… Expand
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1987
1987
Zircons separated from monzonoritic rocks and quartz mangerites (igneous and metamorphic) have been studied for various… Expand
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