Chiara Criscuolo

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

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

Amila Suraweera, Olivier J. Bécherel, Philip Chen et al. · The Journal of Cell Biology · 2007 · 195 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

Marialuisa Quadri, Wim Mandemakers, Martyna M. Grochowska et al. · The Lancet Neurology · 2018 · 165 citations

Life Sciences, Genetics, Molecular Genetics +17

<scp><i>GBA</i>‐Related</scp> Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

Simona Petrucci, Monia Ginevrino, Ilaria Trezzi et al. · Movement Disorders · 2020 · 147 citations · Full text

Life Sciences, Genetics, Neurology +17

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

Simone Olgiati, Anna De Rosa, Marialuisa Quadri et al. · Neurogenetics · 2014 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8