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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2017
2017
Spinocerebellar ataxias (SCAs) are a group of autosomal dominant, clinically heterogeneous neurodegenerative disorders. SCA18 is… (More)
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2016
2016
Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary… (More)
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2013
2013
The striking paradox of pure autosomal dominant hereditary spastic paraplegia (AD HSP), in contrast to capsular stroke or primary… (More)
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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… (More)
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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… (More)
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2007
2007
We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of… (More)
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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… (More)
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2004
2004
BACKGROUND Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the SPG4 gene, which encodes… (More)
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2004
2004
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders… (More)
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2003
2003
Mutations in the SPG3A gene encoding the novel GTPase atlastin have recently been implicated in causing autosomal dominant… (More)
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