Josja Graafland

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 · 320 citations

Life Sciences, Genetics, Molecular Genetics +17

<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 · 205 citations · Full text

Life Sciences, Genetics, Neurology +17

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

Life Sciences, Genetics, Neurology +17

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

Simone Olgiati, Astrid Thomas, Marialuisa Quadri et al. · Parkinsonism & Related Disorders · 2015 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Manganese transport disorder: Novel <i>SLC30A10</i> mutations and early phenotypes

Marialuisa Quadri, Mahesh Kamate, Suvasini Sharma et al. · Movement Disorders · 2015 · 63 citations

Medicine, Genetics, Neurology +14