Una‐Marie Sheerin

Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

Alexander Carvajal-González, Maria Isabel Leite, Patrick Waters et al. · Brain · 2014 · 514 citations · Full text

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Laurie Robak, Iris E. Jansen, Jeroen van Rooij et al. · Brain · 2017 · 440 citations · Full text

Genetics, Genetic Epidemiology, Variant Burden +16

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage, Valérie Drouet, Elisa Majounie et al. · The American Journal of Human Genetics · 2016 · 427 citations · Full text

Cell Autophagy, Mitophagy, Mitochondrial Function +7

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Alexandria Beilina, Iakov N. Rudenko, Alice Kaganovich et al. · Proceedings of the National Academy of Sciences · 2014 · 362 citations · Full text

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Gavin Charlesworth, Vincent Plagnol, Kira M. Holmström et al. · The American Journal of Human Genetics · 2012 · 254 citations · Full text