Add to ORKGMutations in the SPG7 gene, encoding the mitochon-drial protein paraplegin, were the ®rst to be identi®ed in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations have been described so far in association with both pure and com-plicated HSP phenotypes. Muscle biopsies from the most severely affected patients have shown histological evidence of an oxidative phosphorylation defect. We identi®ed six ARHSP kindreds, in whom linkage to SPG7 could not be excluded, and 29 sporadic spastic paraplegia patients. The 17 exons and ¯anking regions of the SPG7 gene were screened for mutations using a combination of single-stranded conformation poly-morphism (SSCP) analysis and sequencing. Three patients were found to ca...
SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic parapl...
AbstractHereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous n...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...
Mutations in the SPG7 gene, encoding the mitochon-drial protein paraplegin, were the ®rst to be iden...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
<div><p>Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene enco...
We report the clinical description and genetic analyses of a Greek family with four individuals affe...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurologi...
Abstract Background Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clini...
An autosomal recessive form of hereditary spastic paraplegia (AR-HSP) is primarily caused by mutatio...
SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic parapl...
AbstractHereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous n...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...
Mutations in the SPG7 gene, encoding the mitochon-drial protein paraplegin, were the ®rst to be iden...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding par...
<div><p>Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene enco...
We report the clinical description and genetic analyses of a Greek family with four individuals affe...
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clin...
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurologi...
Abstract Background Autosomal recessive hereditary spastic paraplegias (ARHSPs) are a group of clini...
An autosomal recessive form of hereditary spastic paraplegia (AR-HSP) is primarily caused by mutatio...
SPG7 is a newly identified gene involved in an autosomal recessive form of hereditary spastic parapl...
AbstractHereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous n...
Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the l...