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

Gabriella Silvestri, Marcella Masciullo, A. Tessa, M. F. De Leva, P. S. Denora, M. T. Dotti, C. Casali, M. A.B. Melone, A. Federico, A. Filla, F. M. Santorelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

24 Citazioni (Scopus)

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
Lingua originaleEnglish
pagine (da-a)1090-1092
Numero di pagine3
RivistaJournal of Neurology
Stato di pubblicazionePubblicato - 2008

Keywords

  • KIF5A
  • SPG10

Fingerprint Entra nei temi di ricerca di 'A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.'. Insieme formano una fingerprint unica.

Cita questo