Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

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

Life Sciences, Genetics, Neurology +10

Mutations in NHLRC1 cause progressive myoclonus epilepsy

Elayne M. Chan, Edwin J. Young, Leonarda Ianzano et al. · Nature Genetics · 2003 · 326 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Life Sciences, Neurology, Neuroscience +17

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

José M. Serratosa · Human Molecular Genetics · 1999 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16