Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred

Silvestri, G., Tessa, A., Masciullo, M., De Leva, M. F., Denora, P., Santorelli Filippo, M., Dotti, M. T., Casali, C., Melone, M., Federico, A., Filla, A., A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy., <<JOURNAL OF NEUROLOGY>>, 2008; (Luglio): 1090-1092 [http://hdl.handle.net/10807/31877]

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Silvestri, Gabriella;Masciullo, Marcella;
2008

Abstract

Hereditary spastic paraplegia (HSP) refers to a group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs – either in isolation (“pure” forms) or associated with an array of additional features (“complicated” forms) –, and great genetic heterogeneity – sustained by the identification of > 35 loci, of which 15 have been described in autosomal dominant (AD) kindred
eng
Silvestri, G., Tessa, A., Masciullo, M., De Leva, M. F., Denora, P., Santorelli Filippo, M., Dotti, M. T., Casali, C., Melone, M., Federico, A., Filla, A., A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy., <>, 2008; (Luglio): 1090-1092 [http://hdl.handle.net/10807/31877]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/31877
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