Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia (Articolo in rivista)

Type
Label
  • Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia (Articolo in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1001/jamaneurol.2014.756 (literal)
Alternative label
  • Bettencourt, Conceicao; Ryten, Mina; Forabosco, Paola; Schorge, Stephanie; Hersheson, Joshua; Hardy, John; Houlden, Henry (2014)
    Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia
    in JAMA Neurol.
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Bettencourt, Conceicao; Ryten, Mina; Forabosco, Paola; Schorge, Stephanie; Hersheson, Joshua; Hardy, John; Houlden, Henry (literal)
Pagina inizio
  • 831 (literal)
Pagina fine
  • 839 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 71 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 9 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 7 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • University College London; Kings College London; Consiglio Nazionale delle Ricerche (CNR); University College London (literal)
Titolo
  • Insights From Cerebellar Transcriptomic Analysis Into the Pathogenesis of Ataxia (literal)
Abstract
  • OBJECTIVES To address the possible relationships among known SCA genes, predict their functions, identify overlapping pathways, and provide a framework for candidate gene discovery using whole-transcriptome expression data. (literal)
  • IMPORTANCE The core clinical and neuropathological feature of the autosomal dominant spinocerebellar ataxias (SCAs) is cerebellar degeneration. Mutations in the known genes explain only 50% to 60% of SCA cases. To date, no effective treatments exist, and the knowledge of drug-treatable molecular pathways is limited. The examination of overlapping mechanisms and the interpretation of how ataxia genes interact will be important in the discovery of potential disease-modifying agents. (literal)
Prodotto di
Autore CNR

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