Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association study to identify additional factors modifying age at onset, w...

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Pubblicato in:Nat Commun
Autori principali: Laabs, Björn-Hergen, Klein, Christine, Pozojevic, Jelena, Domingo, Aloysius, Brüggemann, Norbert, Grütz, Karen, Rosales, Raymond L., Jamora, Roland Dominic, Saranza, Gerard, Diesta, Cid Czarina E., Wittig, Michael, Schaake, Susen, Dulovic-Mahlow, Marija, Quismundo, Jana, Otto, Pia, Acuna, Patrick, Go, Criscely, Sharma, Nutan, Multhaupt-Buell, Trisha, Müller, Ulrich, Hanssen, Henrike, Kilpert, Fabian, Franke, Andre, Rolfs, Arndt, Bauer, Peter, Dobričić, Valerija, Lohmann, Katja, Ozelius, Laurie J., Kaiser, Frank J., König, Inke R., Westenberger, Ana
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8163740/
https://ncbi.nlm.nih.gov/pubmed/34050153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-021-23491-4
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