Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Identifieur interne : 000168 ( Pmc/Corpus ); précédent : 000167; suivant : 000169Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Auteurs : Nutan Sharma ; Ramon A. Franco ; John Kuster ; Adele A. Mitchell ; Tania Fuchs ; Rachel Saunders-Pullman ; Deborah Raymond ; Mitchell F. Brin ; Andrew Blitzer ; Susan B. Bressman ; Laurie J. OzeliusSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
Abstract
Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.
Url:
DOI: 10.1002/mds.23225
PubMed: 20669276
PubMed Central: 3095887
Links to Exploration step
PMC:3095887***** Acces problem to record *****\Le document en format XML
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000168 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000168 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Pmc |étape= Corpus |type= RBID |clé= PMC:3095887 |texte= Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:20669276" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
![]() | This area was generated with Dilib version V0.6.23. | ![]() |