Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy

By Dubey Deepti   Ganesh Subramaniam  

Human Molecular Genetics, Vol. 17, Iss. 19, 2008-10 ,pp. : 3010-3020

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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Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

By Lohi Hannes  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2727-2736

Oxford University Press

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