P. Riguzzi

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 315 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Myoclonus epilepsy and ataxia due to <scp><i>KCNC</i></scp><i>1</i> mutation: Analysis of 20 cases and <scp>K</scp>⁺ channel properties

Karen Oliver, Silvana Franceschetti, Carol J. Milligan et al. · Annals of Neurology · 2017 · 89 citations · Full text

Medicine, Neurology, Neuroscience +17

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen Oliver, Eon Joo Park et al. · The American Journal of Human Genetics · 2021 · 86 citations · Full text

Medicine, Genetics, Neurology +17

Early neurological manifestations of hospitalized COVID-19 patients

Veria Vacchiano, P. Riguzzi, L. Volpi et al. · Neurological Sciences · 2020 · 85 citations · Full text

Medicine, Infectious Diseases, Neurology +11

Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by<i>SCARB2</i>mutations

Guido Rubboli, Silvana Franceschetti, Samuel F. Berkovic et al. · Epilepsia · 2011 · 62 citations

Medicine, Neurology, Neuroscience +17