Characterization of a rare Unverricht–Lundborg disease mutation

Mutations in the Gene Encoding Cystatin B in Progressive Myoclonus Epilepsy (EPM1)

L Pennacchio, Anna‐Elina Lehesjoki, Nancy Stone et al. · Science · 1996 · 539 citations

REAP: A two minute cell fractionation method

Pinaki Bose, Rebecca Y. Y. Leong-Quong, Donald J. Fujita et al. · BMC Research Notes · 2010 · 513 citations · Full text

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

Reijo Norio, Marjaleena Koskiniemi · Clinical Genetics · 1979 · 135 citations

Psychiatry, Corticobasal Degeneration, Progressive Myoclonus Epilepsy +11

Cystatin B Deficiency Sensitizes Neurons to Oxidative Stress in Progressive Myoclonus Epilepsy, EPM1

Maria K. Lehtinen, Saara Tegelberg, Hyman M. Schipper et al. · Journal of Neuroscience · 2009 · 126 citations · Full text

Cathepsin B but not cathepsins L or S contributes to the pathogenesis of Unverricht‐Lundborg progressive myoclonus epilepsy (EPM1)

Megan K. Houseweart, L Pennacchio, Alex Vilaythong et al. · Journal of Neurobiology · 2003 · 107 citations · Full text