Literature DB >> 34147889

EPM2A in-frame deletion slows neurological decline in Lafora Disease.

Lysa Boissé Lomax1, Brandy Verhalen2, Berge A Minassian3.   

Abstract

Entities:  

Keywords:  Lafora disease; Laforin; Progressive myoclonus epilepsy

Mesh：

Substances：

Year:  2021        PMID： 34147889      PMCID： PMC8434975          DOI： 10.1016/j.seizure.2021.06.002

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.414


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  4 in total

1.  Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

Authors:  Madushi Raththagala; M Kathryn Brewer; Matthew W Parker; Amanda R Sherwood; Brian K Wong; Simon Hsu; Travis M Bridges; Bradley C Paasch; Lance M Hellman; Satrio Husodo; David A Meekins; Adam O Taylor; Benjamin D Turner; Kyle D Auger; Vikas V Dukhande; Srinivas Chakravarthy; Pascual Sanz; Virgil L Woods; Sheng Li; Craig W Vander Kooi; Matthew S Gentry
Journal:  Mol Cell       Date:  2014-12-24       Impact factor: 17.970

Review 2.  Lafora disease - from pathogenesis to treatment strategies.

Authors:  Felix Nitschke; Saija J Ahonen; Silvia Nitschke; Sharmistha Mitra; Berge A Minassian
Journal:  Nat Rev Neurol       Date:  2018-10       Impact factor: 42.937

3.  The SWISS-MODEL Repository-new features and functionality.

Authors:  Stefan Bienert; Andrew Waterhouse; Tjaart A P de Beer; Gerardo Tauriello; Gabriel Studer; Lorenza Bordoli; Torsten Schwede
Journal:  Nucleic Acids Res       Date:  2016-11-29       Impact factor: 16.971

4.  Genotypes and phenotypes of patients with Lafora disease living in Germany.

Authors:  David Brenner; Tobias Baumgartner; Sarah von Spiczak; Jan Lewerenz; Roger Weis; Anja Grimmer; Petra Gaspirova; Claudia D Wurster; Wolfram S Kunz; Jan Wagner; Berge A Minassian; Christian E Elger; Albert C Ludolph; Saskia Biskup; Dennis Döcker
Journal:  Neurol Res Pract       Date:  2019-11-12
  4 in total

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