Marijke Joosse

Erasmus MC — Netherlands

Medicine · Health Sciences

16h-index9.0kcitations20works0.02yr avg
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Research Topics

Alzheimer's disease research and treatments(6), Parkinson's Disease Mechanisms and Treatments(4), Carbohydrate Chemistry and Synthesis(3), Lysosomal Storage Disorders Research(3), Glycogen Storage Diseases and Myoclonus(3)

Publications20 total

P095 Consequences of an IL2RA locus duplication in a very early onset inflammatory bowel disease patient
Journal of Crohn s and Colitis·2018Open Access
Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder
Genomics·2003· 229 cited
Mutations in the <i>DJ-1</i> Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Science·2003· 2.8k cited
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
Neurogenetics·2002· 30 citedOpen Access
Disruption of a long-range cis-acting regulator for <i>Shh</i> causes preaxial polydactyly
Proceedings of the National Academy of Sciences·2002· 456 citedOpen Access
Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3
The American Journal of Human Genetics·2001· 128 citedOpen Access
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
Nature Genetics·2001· 497 cited
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction
Mammalian Genome·2001· 8 cited
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet
2000· 11 cited
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
Nature Genetics·1999· 292 cited
FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation
Annals of Neurology·1999· 203 cited
Phenotypic variation in hereditary frontotemporal dementia with tau mutations
Annals of Neurology·1999· 221 cited
The tau gene in progressive supranuclear palsy: exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases
Neuroscience Letters·1999· 28 cited
A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36
Genomics·1999· 69 cited
High Prevalence of Mutations in the Microtubule-Associated Protein Tau in a Population Study of Frontotemporal Dementia in the Netherlands
The American Journal of Human Genetics·1999· 425 citedOpen Access
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Nature·1998· 3.5k cited
A novel acid α‐glucosidase mutation identified in a Pakistani family with glycogen storage disease type II
Journal of Inherited Metabolic Disease·1997· 17 cited
Deletion of Exon 18 Is a Frequent Mutation in Glycogen Storage Disease Type II
Biochemical and Biophysical Research Communications·1994· 57 cited
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
Human Molecular Genetics·1994· 64 cited
No specific ophthalmologic abnormalities in Gilles de la Tourette syndrome
1993

Frequent Co-authors

Peter Heutink(12), Ben A. Oostra(5), John C. van Swieten(4), Marijke J. van Baren(4), Guido J. Breedveld(4), Cornelia M. van Duijn(4), Ben A. Oostra(4), Patrizia Rizzu(3), Marian A. Kroos(3), Arnold Reuser(3), Martijn Stevens(2), Esther de Graaff(2), Marcel Hillebrand(2), Vincenzo Bonifati(2), Nicola Vanacore(2), Lodewijk A. Sandkuijl(2), Stephen W. Scherer(2), Patrizia Rizzu(2), Martinus F. Niermeijer(2), Rivka Ravid(2)