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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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Dades bibliogràfiques
Publicat a:J Neurol
Autors principals: Chaudhry, Aiysha, Anthanasiou-Fragkouli, Alkyoni, Houlden, Henry
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Accés en línia: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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