An empirical pipeline for personalized diagnosis of Lafora disease mutations

An empirical pipeline for personalized diagnosis of Lafora disease mutations

Summary: Lafora disease (LD) is a fatal childhood dementia characterized by progressive myoclonic epilepsy manifesting in the teenage years, rapid neurological decline, and death typically within ten years of onset. Mutations in either EPM2A, encoding the glycogen phosphatase laforin, or EPM2B, enco...

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Détails bibliographiques
Auteurs principaux: M. Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L. Wayne, Andrea Kuchtová, Zoe R. Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida García-Gimeno, Jose M. Serratosa, Pascual Sanz, Craig W. Vander Kooi, Matthew S. Gentry
Format: article
Langue:EN
Publié: Elsevier 2021
Sujets:
Disease
Biochemistry
Structural biology
Biophysics
Science
Q
Accès en ligne:https://doaj.org/article/08a505503d644df58c43dc58bd8a2937
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https://doaj.org/article/08a505503d644df58c43dc58bd8a2937

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