Associated Papers
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
Fogli A et al.
Human Genetics, 2009
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.
Errico A et al.
Human Molecular Genetics, 2002
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N et al.
Human Molecular Genetics, 2000
[Isolated spastic paraparesis disclosing Krabbe disease in adult age].
Bataillard M et al.
Revue Neurologique, 1997
[Clinical and genetic study of a family with hereditary essential myoclonus].
Gualandri V et al.
Revue Neurologique, 1987
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