Norbert Brüggemann

Clinical manifestations of the anti-IgLON5 disease

Carles Gaig, Francesc Graus, Yarko Compta et al. · Neurology · 2017 · 402 citations · Full text

Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts

Aleksandar Raković, Anne Grünewald, Jan Kottwitz et al. · PLoS ONE · 2011 · 231 citations · Full text

Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism

Max Borsche, Inke R. König, Sylvie Delcambre et al. · Brain · 2020 · 179 citations · Full text

Mitophagy, Immunology, Cell Death +19

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

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 159 citations · Full text

Pathology, Neurogenetics, Neurology +2