Marjo S. van der Knaap

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 680 citations · Full text

Allergy, Autoimmune Disease, Pathogenesis +5

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann, Marjo S. van der Knaap · Neurology · 2009 · 541 citations · Full text

Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly

Douglas B. Gould, F. Campbell Phalan, Guido J. Breedveld et al. · Science · 2005 · 523 citations

Knockout Mouse, Developmental Anomaly, Mutant Mice +15

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 450 citations

Amyotrophic Lateral Sclerosis, Mitochondrial Function, Neurological Disorder +13