A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

By Topcu M.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 345-352

Oxford University Press

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Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

By Ganesh Subramaniam   Agarwala Kishan Lal   Ueda Kazunori  

Human Molecular Genetics, Vol. 9, Iss. 15, 2000-09 ,pp. : 2251-2261

Oxford University Press

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Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

By Alonso M.E.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1263-1271

Oxford University Press

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Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

By Amano K.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1251-1262

Oxford University Press

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Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

By Chan Elayne M.   Ackerley Cameron A.   Lohi Hannes   Ianzano Leonarda   Cortez Miguel A.   Shannon Patrick   Scherer Stephen W.   Minassian Berge A.  

Human Molecular Genetics, Vol. 13, Iss. 11, 2004-06 ,pp. : 1117-1129

Oxford University Press

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