Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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Human Molecular Genetics, Vol. 9, Iss. 4, 2000-03 ,pp. : 637-644

Oxford University Press

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Evaluation of loss of function as an explanation for SPG4 -based hereditary spastic paraplegia

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Oxford University Press

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Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21–p24

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Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

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Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

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Human Molecular Genetics, Vol. 19, Iss. 10, 2010-05 ,pp. : 1883-1896

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