Complex phenotype in an Italian family with novel mutation in SPG3A (Abstract in rivista)

Type
Label
  • Complex phenotype in an Italian family with novel mutation in SPG3A (Abstract in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s00415-009-5311-3 (literal)
Alternative label
  • de Leva MF; Filla A; Criscuolo C; Pappata S; Quarantelli M; Santorelli F; De Michele G (2010)
    Complex phenotype in an Italian family with novel mutation in SPG3A
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • de Leva MF; Filla A; Criscuolo C; Pappata S; Quarantelli M; Santorelli F; De Michele G (literal)
Pagina inizio
  • 328 (literal)
Pagina fine
  • 331 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 257 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 3 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Univ Naples Federico 2, Dept Neurol Sci, I-80131 Naples, Italy Univ Naples Federico 2, Natl Res Council, Dept Biomorphol & Funct Sci, Biostruct & Bioimaging Inst, I-80131 Naples, Italy IRCCS Bambino Gesu Hosp, Rome, Italy Univ Turin, Dept IFM Chem & Mol Imaging, Turin, Italy (literal)
Titolo
  • Complex phenotype in an Italian family with novel mutation in SPG3A (literal)
Abstract
  • Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations. (literal)
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