Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

E. Sidransky, Mike A. Nalls, Jan Aasly et al. · New England Journal of Medicine · 2009 · 2.1K citations · Full text

Life Sciences, Neurology, Neuroscience +14

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton et al. · Nature Genetics · 2006 · 538 citations · Full text

Life Sciences, Neurology, Neuroscience +8

Characterization of PLA2G6 as a locus for dystonia‐parkinsonism

Coro Paisán-Ruı́z, Kailash P. Bhatia, Abi Li et al. · Annals of Neurology · 2008 · 482 citations

Life Sciences, Genetics, Neurology +16

A genetic study of Wilson’s disease in the United Kingdom

Alison J. Coffey, Miranda Durkie, Stephen Hague et al. · Brain · 2013 · 362 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype

Christine Klein, Peter P. Pramstaller, Bernhard Kis et al. · Annals of Neurology · 2000 · 221 citations

Life Sciences, Genetics, Neurology +17