NMDA receptor gene variations as modifiers in Huntington disease: a replication study. (Articolo in rivista)

Type

• Prodotto della ricerca (Classe)
• Articolo in rivista (Classe)

Label

• NMDA receptor gene variations as modifiers in Huntington disease: a replication study. (Articolo in rivista) (literal)

Anno

• 2011-01-01T00:00:00+01:00 (literal)

Alternative label

• Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D; REGISTRY Investigators of the European Huntington's Disease Network, Arning L. (2011)
  NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
  in PLoS currents
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Saft C, Epplen JT, Wieczorek S, Landwehrmeyer GB, Roos RA, de Yebenes JG, Dose M, Tabrizi SJ, Craufurd D; REGISTRY Investigators of the European Huntington's Disease Network, Arning L. (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• RPN1247 (literal)

Rivista

• PLoS currents (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• Istituto di Farmacologia Traslazionale, CNR Via Fosso del Cavaliere, 100 00133 Roma Italy (literal)

Titolo

• NMDA receptor gene variations as modifiers in Huntington disease: a replication study. (literal)

Abstract

• Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the \"REGISTRY\" cohort from the European Huntington Disease Network (EHDN). The analyses did replicate the association reported between the GRIN2A rs2650427 variation and AO in the entire cohort. Yet, when subjects were stratified by AO subtypes, we found nominally significant evidence for an association of the GRIN2A rs1969060 variation and the GRIN2B rs1806201 variation. These findings further implicate the N-methyl D-aspartate receptor subtype genes as loci containing variation associated with AO in HD. (literal)

Prodotto di

• Neurogenetica e basi molecolari delle atassie spinocerebellari (SCA), atassie episodiche (EA), corea ereditaria benigna (BHC) e demenze associate a depressione e/o a disturbi psico-comportamentali. (ME.P02.026.001) (Modulo)

Autore CNR

• MARINA FRONTALI (Persona)

Incoming links:

Autore CNR di

• MARINA FRONTALI (Persona)

Prodotto

• Neurogenetica e basi molecolari delle atassie spinocerebellari (SCA), atassie episodiche (EA), corea ereditaria benigna (BHC) e demenze associate a depressione e/o a disturbi psico-comportamentali. (ME.P02.026.001) (Modulo)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• PLoS currents (Rivista)