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The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.

Muscle & nerve - 1 Jun 2012

Magariello Angela, Tortorella Carla, Citrigno Luigi, Patitucci Alessandra, Tortelli Rosanna, Mazzei Rosalucia, Conforti Francesca Luisa, Ungaro Carmine, Sproviero William, Gambardella Antonio, Muglia Maria

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PMID: 22581552
DOI: 10.1002/mus.23360

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The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.PMID 22581552Read ↗

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Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.Semantic proximity Read ↗

Hereditary spastic paraplegia 3A associated with axonal neuropathy.Semantic proximity Read ↗

Novel mutations c. [453dupA] + [663G > A] of the SPG11 gene associated with hereditary spastic paraplegia with a thin corpus callosum.Semantic proximity Read ↗

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.Semantic proximity Read ↗

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.Semantic proximity Read ↗

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