A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness (Articolo in rivista)

Type
Label
  • A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness (Articolo in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.jns.2014.05.063 (literal)
Alternative label
  • Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I. (2014)
    A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness
    in Journal of the neurological sciences
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I. (literal)
Pagina inizio
  • 218 (literal)
Pagina fine
  • 220 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.scopus.com/inward/record.url?eid=2-s2.0-84904259421&partnerID=q2rCbXpz (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 343 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 1-2 (literal)
Note
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy; Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari, Italy (literal)
Titolo
  • A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness (literal)
Abstract
  • Hereditary spastic paraplegia (HSP) includes a group of diseases characterized by progressive spastic weakness of the lower limbs (pure forms) with possible additional signs (complicated forms). The SPG10 form is due to alteration in the kinesin1A gene (KIF5A) that encodes the neuronal kinesin heavy chain, a protein required for the anterograde axonal transport. We performed clinical, neurophysiological and molecular studies in two siblings affected by AD-HSP complicated by deafness. The screening of the KIF5A gene revealed the novel mutation p.Leu259Gln in two affected siblings and in their father with a pure form of HSP. © 2014 Elsevier B.V. (literal)
Prodotto di
Autore CNR
Insieme di parole chiave

Incoming links:


Autore CNR di
Prodotto
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi
Insieme di parole chiave di
data.CNR.it