Reijo Norio

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

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 373 citations · Full text

Cohen Syndrome Is, Molecular Physiology, Disease Mechanism +10

Hereditary diseases in Finland; rare flora in rare soul.

Reijo Norio, Nevanlinna Hr, Jaakko Perheentupa · PubMed · 1973 · 251 citations

Genetics, Hereditary Diseases, Plant Health

PROGRESSIVE MYOCLONUS EPILEPSY

Marjaleena Koskiniemi, M. Donner, H. Majuri et al. · Acta Neurologica Scandinavica · 2009 · 195 citations

Corticobasal Degeneration, Progressive Myoclonus Epilepsy, Neurological Disorder +17

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Kimmo Virtaneva, Elena D’Amato, Jinmin Miao et al. · Nature Genetics · 1997 · 192 citations

Genetics, Neuroscience, Myoclonus Epilepsy +1