Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment
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[1] J. López-Sendón,et al. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia , 2014, Clinical genetics.
[2] B. P. Warrenburg,et al. Pure adult-onset Spastic Paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene , 2013, Journal of Neurology.
[3] E. Reid,et al. The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function , 2013, Biochimica et biophysica acta.
[4] M. Sobrido,et al. Revisiting genotype–phenotype overlap in neurogenetics: Triplet‐repeat expansions mimicking spastic paraplegias , 2012, Human mutation.
[5] J. Finsterer,et al. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance , 2012, Journal of the Neurological Sciences.
[6] M. Zatz,et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. , 2007, American journal of human genetics.
[7] M. Passos-Bueno,et al. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. , 2000, American journal of medical genetics.
[8] D. Rubinsztein,et al. Autosomal dominant spastic paraplegia , 1999, Neurology.