Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
Zuchner S, Wang G, Tran-Viet KN, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet 2006;79:365-9.
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
Sauter SM, Engel W, Neumann, et al. 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. Hum Mutat 2004;23:98.
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
Reid E, Kloos M, Ashley-Koch A, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 2002;71:1189-94.
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
Fichera M, Lo Giudice M, Falco M, et al. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 2004;63:1108-10.
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia
Lo Giudice M, Neri M, Falco M, et al. A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch Neurol 2006;63:284-7.
The Spastic Paraplegia Rating Scale (SPRS): A reliable and valid measure of disease severity
Schule R, Holland-Letz T, Klimpe S, et al. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 2006;67:430-4.
Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
Sauter S, Miterski B, Klimpe S, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 2002;20:127-32.