Concepedia

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, Edwin J. Young, Leonarda Ianzano, Iulia Munteanu, Xiaochu Zhao, Constantine Christopoulos, G. Avanzini, Maurizio Elia, Cameron Ackerley, N. Jović,

Nature Genetics · 2003 · 326 citations · 11 references

DOI

Concepts

References

11

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

Berge A. Minassian, Jeffrey R. Lee, Jo-Anne Herbrick et al. · Nature Genetics · 1998 · 490 citations

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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

Subramaniam Ganesh · Human Molecular Genetics · 2002 · 245 citations

, , +17

A novel repeat domain that is often associated with RING finger and B-box motifs

Frank J. Slack, Gary Ruvkun · Trends in Biochemical Sciences · 1998 · 155 citations

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

Subramaniam Ganesh, Kishan Agarwala, Koji Ueda et al. · Human Molecular Genetics · 2000 · 148 citations · Full text

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Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (<i>EPM2B</i>) on 6p22

Elayne M. Chan, Dennis E. Bulman, Andrew D. Paterson et al. · Journal of Medical Genetics · 2003 · 89 citations · Full text

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