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Spastic paraplegia 4, autosomal dominant

Known as: SPG4, Familial spastic paraplegia autosomal dominant 2, FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2 
 
National Institutes of Health

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Highly Cited
2007
Highly Cited
2007
BACKGROUND Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic… Expand
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2007
2007
SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized… Expand
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2007
2007
The aim of our study was to evaluate Motor Evoked Potentials (MEPs) and cortical excitability, using Transcranial Magnetic… Expand
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Hereditary spastic paraplegias are disorders that are very heterogeneous, both clinically and genetically. The… Expand
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2004
2004
Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family… Expand
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2004
2004
The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary… Expand
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Highly Cited
2002
Highly Cited
2002
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders… Expand
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Highly Cited
2000
Highly Cited
2000
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders… Expand
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2000
2000
Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterised… Expand
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1998
1998
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by… Expand
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