Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Pati...
Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy 1 (EPM1), is a rare autosomal recessive neurodegenerative disorder characterized by a complex symptomatology that includes action- and stimulus-sensitive myoclonus and tonic-clonic seizures. The main cause of the onset and development of ULD is a repeat expansion of a d...
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Full title
Insights into the Genetic Profile of Two Siblings Affected by Unverricht-Lundborg Disease Using Patient-Derived hiPSCs
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TN_cdi_doaj_primary_oai_doaj_org_article_6d6a8c7fef864716addbdb6e971790c6
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6d6a8c7fef864716addbdb6e971790c6
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ISSN
2073-4409
E-ISSN
2073-4409
DOI
10.3390/cells11213491
