Marijke Joosse
Erasmus MC(NL)Erasmus University Rotterdam(NL)
Publications by Year
Research Areas
Alzheimer's disease research and treatments, Parkinson's Disease Mechanisms and Treatments, Carbohydrate Chemistry and Synthesis, Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17(1998)3,499 cited
- → Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism(2003)2,760 cited
- → A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis(2001)497 cited
- → Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly(2002)456 cited
- → High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands(1999)427 cited
- → A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases(1999)293 cited
- → Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder(2003)229 cited
- → Phenotypic variation in hereditary frontotemporal dementia with tau mutations(1999)221 cited
- → FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation(1999)205 cited
- → Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3(2001)130 cited