Marjo S. van der Knaap
Emma Kinderziekenhuis(NL)University of Amsterdam(NL)
Publications by Year
Research Areas
RNA regulation and disease, RNA Research and Splicing, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, RNA modifications and cancer
Most-Cited Works
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Invited Article: An MRI-based approach to the diagnosis of white matter disorders(2009)545 cited
- → Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly(2005)526 cited
- → Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation(2007)450 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter(2001)416 cited