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

Laurie Robak, Iris E. Jansen, Jeroen van Rooij, +134

Brain

GeneticsGenetic EpidemiologyVariant BurdenDisease Gene IdentificationGenome-wide Association Study +14

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

Suzanne Lesage, Valérie Drouet, Elisa Majounie, +212

The American Journal of Human Genetics

Cell AutophagyMitophagyMitochondrial FunctionGeneticsAutophagy +5

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, +160

Proceedings of the National Academy of Sciences

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

Gavin Charlesworth, Vincent Plagnol, Kira M. Holmström, +11

The American Journal of Human Genetics

The phenotypic spectrum of DYT24 due to ANO3 mutations

María Stamelou, Gavin Charlesworth, Carla Cordivari, +8

Movement Disorders

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

Gavin Charlesworth, Plamena R. Angelova, Fernando Benito Bartolomé, +6

The American Journal of Human Genetics

Primary Isolated DystoniaMendelian DisorderGenetic DisorderGeneticsDyt2 Dystonia +9

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia

Gavin Charlesworth, Mahavir D. Mohire, Susanne A. Schneider, +3

Neurology

Screening for VPS35 mutations in Parkinson's disease

Una‐Marie Sheerin, Gavin Charlesworth, José Brás, +7

Neurobiology of Aging

<i>C9ORF72</i> expansions, parkinsonism, and Parkinson disease

Johnathan Cooper‐Knock, Antonina Frolov, J. Robin Highley, +11

Neurology

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Sonja Klebe, Jean Louis Golmard, Michael A. Nalls, +182

Journal of Neurology Neurosurgery & Psychiatry