Autosomal dominant essential tremor: A novel family with anticipation (Articolo in rivista)

Type
Label
  • Autosomal dominant essential tremor: A novel family with anticipation (Articolo in rivista) (literal)
Anno
  • 2013-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s10072-012-1216-5 (literal)
Alternative label
  • Pasini E.; Busolin G.; Nobile C.; Michelucci R. (2013)
    Autosomal dominant essential tremor: A novel family with anticipation
    in Neurological sciences (Testo stamp.)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Pasini E.; Busolin G.; Nobile C.; Michelucci R. (literal)
Pagina inizio
  • 761 (literal)
Pagina fine
  • 763 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.scopus.com/inward/record.url?eid=2-s2.0-84878020594&partnerID=q2rCbXpz (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 34 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 5 (literal)
Note
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Unit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura, 3, 40139 Bologna, Italy; CNR Institute of Neurosciences, Section of Padua, Padua, Italy (literal)
Titolo
  • Autosomal dominant essential tremor: A novel family with anticipation (literal)
Abstract
  • Essential tremor (ET) is a common progressive movement disorder characterized by a clear genetic predisposition. In the last years, many efforts have been done to map susceptibility loci for ET. Here, we report a clinical and genetic study of a family with ET showing autosomal dominant inheritance and anticipation over three generations. The family has five affected members and exhibits a remarkable anticipation of age at onset of the disease along the generations. We excluded linkage to any of the three loci previously mapped in autosomal dominant ET families. Our data suggest the existence of an additional locus in which a repeat expansion is the possible genetic defect underlying ET. © 2012 Springer-Verlag Italia. (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