Marjon van Slegtenhorst
Erasmus MC(NL)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cardiomyopathy and Myosin Studies, Cardiovascular Function and Risk Factors, Cardiovascular Effects of Exercise
Most-Cited Works
- → Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34(1997)1,663 cited
- → Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein(2000)1,358 cited
- → A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study(2009)922 cited
- → Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies(1997)606 cited
- → Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products(1998)569 cited
- Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.(1996)
- → Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation(1999)214 cited
- → Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation(1999)136 cited
- → Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy(2017)126 cited
- → Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations(2014)123 cited