Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton, Corinne Lendon, Patrizia Rizzu, +47

Nature

Neurodegenerative DiseasesMendelian DisorderGenetic DisorderGeneticsMolecular Biology +6

Mutations in the <i>DJ-1</i> Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

Vincenzo Bonifati, Patrizia Rizzu, Marijke J. van Baren, +15

Science

GeneticsDisease Gene IdentificationSocial SciencesMendelian DisorderDj-1 Protein +14

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Omer T. Njajou, Norbert Vaessen, Marijke Joosse, +9

Nature Genetics

Genetic DisorderGeneticsHematologyPathologyMolecular Genetics +5

Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly

Laura A. Lettice, T. Horikoshi, Simon J. H. Heaney, +18

Proceedings of the National Academy of Sciences

High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands

Patrizia Rizzu, John C. van Swieten, Marijke Joosse, +10

The American Journal of Human Genetics

Alzheimer's DiseaseGeneticsDementiaPathologyProteinopathies +10

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula, +8

Nature Genetics

Anion TransporterGenetic DisorderNatural SciencesGeneticsPathogenesis +10

Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder

Annemieke J.M.H. Verkerk, Carol A. Mathews, Marijke Joosse, +3

Genomics

PsychiatryObsessive Compulsive DisorderNeuropsychiatrySocial SciencesMotor Disorder +7

Phenotypic variation in hereditary frontotemporal dementia with tau mutations

John C. van Swieten, M Stevens, Sonia M. Rosso, +8

Annals of Neurology

FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation

Anne D. Sperfeld, Michael B. Collatz, Hartmut Baier, +8

Annals of Neurology

Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3

Roel A. Ophoff, Joseph DeYoung, Susan K. Service, +14

The American Journal of Human Genetics

Hereditary Vascular RetinopathyOphthalmologyGenetic DisorderMedicineGenetics +8