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DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder caused by CAG repeat expansions in the atrophin-1 gene and is inherited in an autosomal dominant fashion. There are currently no disease-modifying treatments available. The broad development of therapies for DRPLA, as...

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Podrobná bibliografie
Vydáno v:J Neurol
Hlavní autoři: Chaudhry, Aiysha, Anthanasiou-Fragkouli, Alkyoni, Houlden, Henry
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8289787/
https://ncbi.nlm.nih.gov/pubmed/33106889
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-020-10218-6
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