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TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism

BACKGROUND: X‐linked dystonia‐parkinsonism is a rare neurological disease endemic to the Philippines. Dystonic symptoms appear in males at the mean age of 40 years and progress to parkinsonism with degenerative pathology in the striatum. A retrotransposon inserted in intron 32 of the TAF1 gene leads...

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Detalhes bibliográficos
Publicado no:Mov Disord
Main Authors: Al Ali, Jamal, Vaine, Christine A., Shah, Shivangi, Campion, Lindsey, Hakoum, Ahmad, Supnet, Melanie L., Acuña, Patrick, Aldykiewicz, Gabrielle, Multhaupt‐Buell, Trisha, Ganza, Niecy G.M., Lagarde, John B.B., De Guzman, Jan K., Go, Criscely, Currall, Benjamin, Trombetta, Bianca, Webb, Pia K., Talkowski, Michael, Arnold, Steven E., Cheah, Pike S., Ito, Naoto, Sharma, Nutan, Bragg, D. Cristopher, Ozelius, Laurie, Breakefield, Xandra O.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7891430/
https://ncbi.nlm.nih.gov/pubmed/32975318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.28305
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