Marina A.J. Tijssen

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

Patrícia de Carvalho Aguiar, Kathleen J. Sweadner, John T. Penniston et al. · Neuron · 2004 · 508 citations · Full text

Neurodegenerative Diseases, Degenerative Disease, Motor Disorder +6

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

Alison Brashear, William B. Dobyns, Patrícia de Carvalho Aguiar et al. · Brain · 2007 · 274 citations

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Mark I. Rees, Kirsten Harvey, Brian R. Pearce et al. · Nature Genetics · 2006 · 232 citations · Full text

Developmental Biology, Mendelian Disorder, Human Startle Disease +8

Different Functional Loops between Cerebral Cortex and the Subthalmic Area in Parkinson's Disease

Noa Fogelson, David R. Williams, Marina A.J. Tijssen et al. · Cerebral Cortex · 2005 · 221 citations

Neurophysiological Biomarkers, Brain Mapping, Social Sciences +21

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Mijke M.M. Verhagen, James I. Last, Frans B.L. Hogervorst et al. · Human Mutation · 2011 · 166 citations