http://www.cnr.it/ontology/cnr/individuo/prodotto/ID103948
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
- 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)
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- Pagina fine
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
- Rivista
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
- 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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