Browsing Department of Biochemistry and Molecular Biology by Subject "Lafora disease (Lafora progressive myoclonic epilepsy, MELF)"

Browsing Department of Biochemistry and Molecular Biology by Subject "Lafora disease (Lafora progressive myoclonic epilepsy, MELF)"

Sort by: Order: Results:

  • Gentry, Matthew S.; Guinovart, Joan J.; Minassian, Berge A.; Roach, Peter J.; Serratosa, Jose M. (American Society for Biochemistry and Molecular Biology, 2018-05-11)
    Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ...
  • Irimia, Jose M.; Tagliabracci, Vincent S.; Meyer, Catalina M.; Segvich, Dyann M.; DePaoli-Roach, Anna A.; Roach, Peter J. (American Society for Biochemistry & Molecular Biology, 2015-09-11)
    Glycogen, the repository of glucose in many cell types, contains small amounts of covalent phosphate, of uncertain function and poorly understood metabolism. Loss-of-function mutations in the laforin gene cause the fatal ...

Search Repository


My Account

Statistics