Anneke J.A. Kievit

Mutations in <i>VPS13D</i> lead to a new recessive ataxia with spasticity and mitochondrial defects

Eunju Seong, Ryan Insolera, Marija Dulović et al. · Annals of Neurology · 2018 · 163 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

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt et al. · European Journal of Human Genetics · 2017 · 149 citations · Full text

Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study

Jessica Panman, Lize C. Jiskoot, Mark J.R.J. Bouts et al. · Neurobiology of Aging · 2019 · 101 citations · Full text

Corticobasal Degeneration, White Matter, Longitudinal Gray Matter +20

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