E. Niks

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Clare V. Logan, György Szabadkai, Jenny A. Sharpe et al. · Nature Genetics · 2013 · 377 citations · Full text

Life Sciences, Genetics, Neuroscience +17

MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4

Maartje G. Huijbers, Wei Zhang, Rinse Klooster et al. · Proceedings of the National Academy of Sciences · 2013 · 289 citations · Full text

Life Sciences, Immunology, Pharmacology +17

Fewer thymic changes in MuSK antibody‐positive than in MuSK antibody‐negative MG

Maria Isabel Leite, Philipp Ströbel, Margaret T. Jones et al. · Annals of Neurology · 2005 · 250 citations

Life Sciences, Immunology, Pathology +16

The landscape of epilepsy-related GATOR1 variants

Sara Baldassari, Fabienne Picard, Nienke E. Verbeek et al. · Genetics in Medicine · 2018 · 239 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

N. Doorenweerd, Ahmed Mahfouz, Maaike van Putten et al. · Scientific Reports · 2017 · 222 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +15