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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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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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 hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice

By Thierbach Ren   Schulz Tim J.   Isken Frank   Voigt Anja   Mietzner Brun   Drewes Gunnar   von Kleist-Retzow Jrgen-Christoph   Wiesner Rudolf J.   Magnuson Mark A.   Puccio Hlne   Pfeiffer Andreas F.H.   Steinberg Pablo   Ristow Michael  

Human Molecular Genetics, Vol. 16, Iss. 23, 2007-12 ,pp. : 2987-2987

Oxford University Press

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Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice

By Thierbach René   Schulz Tim J.   Voigt Anja   Mietzner Brun   Drewes Gunnar   von Kleist-Retzow Jürgen-Christoph   Wiesner Rudolf J.   Magnuson Mark A.   Puccio Hélène   Pfeiffer Andreas F.H.   Steinberg Pablo   Ristow Michael  

Human Molecular Genetics, Vol. 14, Iss. 24, 2005-12 ,pp. : 3857-3864

Oxford University Press

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