Simone Olgiati

Mutation in the<i>SYNJ1</i>Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

Marialuisa Quadri, Mingyan Fang, Marina Picillo et al. · Human Mutation · 2013 · 309 citations

Neurodegenerative Diseases, Early-onset Parkinsonism, Mendelian Disorder +15

<i>D</i><scp><i>NAJC</i></scp><i>6</i><scp>M</scp>utations <scp>A</scp>ssociated <scp>W</scp>ith <scp>E</scp>arly‐<scp>O</scp>nset <scp>P</scp>arkinson's <scp>D</scp>isease

Simone Olgiati, Marialuisa Quadri, Mingyan Fang et al. · Annals of Neurology · 2015 · 198 citations · Full text

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 · 159 citations

Neurodegenerative Diseases, Genetic Disorder, Genetics +9

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

Simone Olgiati, Anna De Rosa, Marialuisa Quadri et al. · Neurogenetics · 2014 · 126 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Paroxysmal exercise‐induced dystonia within the phenotypic spectrum of <i>ECHS1</i> deficiency

Simone Olgiati, Matěj Škorvánek, Marialuisa Quadri et al. · Movement Disorders · 2016 · 78 citations