Demy J.S. Kuipers

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

<scp><i>EIF2AK2</i></scp> Missense Variants Associated with Early Onset Generalized Dystonia

Demy J.S. Kuipers, Wim Mandemakers, Chin‐Song Lu et al. · Annals of Neurology · 2020 · 63 citations · Full text

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

Simone Olgiati, Okan Doğu, Zeynep Tüfekçıoğlu et al. · Parkinsonism & Related Disorders · 2017 · 41 citations

Translational Medicine, Autoimmune Disease, Genetic Disorder +11

<i>PTRHD1</i> Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability

Demy J.S. Kuipers, Jonathan Carr, Soraya Bardien et al. · Movement Disorders · 2018 · 30 citations

WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia

Matěj Škorvánek, Irena Rektorová, Wim Mandemakers et al. · Parkinsonism & Related Disorders · 2021 · 28 citations · Full text

Experimental Neuropathology, Pathology, Degenerative Disease +4