Marjo S. Van Der Knaap
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Marjo S. Van Der Knaapbiology Degrees
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Biology
Marjo S. Van Der Knaap's Degrees
- PhD Medical Sciences University of Amsterdam
- Doctorate Medicine University of Amsterdam
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(Suggest an Edit or Addition)Marjo S. Van Der Knaap's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response (2009) (636)
- Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (2007) (436)
- Translation matters: protein synthesis defects in inherited disease (2007) (275)
- Vanishing white matter disease (2006) (246)
- Magnetic Resonance of Myelination and Myelin Disorders (1989) (239)
- tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia (2008) (219)
- MR imaging of the various stages of normal myelination during the first year of life (2004) (135)
- MYELINATION AS AN EXPRESSION OF THE FUNCTIONAL MATURITY OF THE BRAIN (1991) (127)
- Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis (2012) (121)
- Subcortical Arteriosclerotic Encephalopathy (1989) (93)
- Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy (2013) (84)
- Pattern recognition in magnetic resonance imaging of white matter disorders inchildren and young adults (2004) (82)
- The effect of intracranial pressure on myelination and the relationship with neurodevelopment in infantile hydrocephalus (1997) (71)
- Diagnosis, prognosis, and treatment of leukodystrophies (2019) (69)
- D-2-Hydroxyglutaric aciduria: Further clinical delineation (1999) (69)
- Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model (2011) (67)
- Dietary supplementation of long‐chain polyunsaturated fatty acids in preterm infants: effects on cerebral maturation (2002) (61)
- Analysis of phospholipids in brain tissue by 31P NMR at different compositions of the solvent system chloroform‐methanol‐ water (1992) (59)
- Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings (2008) (58)
- A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency (2005) (55)
- Magnetic Resonance Imaging and Spectroscopy of the Brain in Propionic Acidemia: Clinical and Biochemical Considerations (1996) (54)
- Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings (1996) (51)
- Regulation of protein synthesis in lymphoblasts from vanishing white matter patients (2006) (51)
- The MR spectrum of peroxisomal disorders (2004) (50)
- Hyperhomocysteinaemia; with reference to its neuroradiological aspects (1995) (50)
- Myelination and Retarded Myelination (1989) (49)
- Myelin and White Matter (1995) (49)
- Magnetic resonance in childhood white-matter disorders The 2001 Ronnie Mac Keith Lecture (2001) (47)
- Propensity for paternal inheritance of de novo mutations in Alexander disease (2006) (42)
- In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism (2001) (41)
- Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency (2008) (37)
- Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome (1996) (36)
- Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene (2014) (36)
- Globoid Cell Leukodystrophy: Krabbe’s Disease (1989) (27)
- Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment (2014) (27)
- Marchiafava-Bignami Syndrome (1989) (26)
- Hyperargininemia: a treatable inborn error of metabolism? (1997) (25)
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient (2011) (24)
- Acute Disseminated Encephalomyelitis and Acute Hemorrhagic Encephalomyelitis (1989) (24)
- Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients (2013) (23)
- Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study (2016) (23)
- Functional MRI of visual cortex in sedated 18 month-old infants with or without periventricular leukomalacia. (2001) (20)
- Vanishing White Matter (2010) (19)
- Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication (2012) (19)
- Magnetic resonance imaging in lactic acidosis (1996) (18)
- Megalencephalic Leukoencephalopathy with Subcortical Cysts (2011) (17)
- GM 2 Gangliosidosis (1989) (14)
- Rhizomelic Chondrodysplasia Punctata (1995) (14)
- The ovarioleukodystrophy (2008) (14)
- Magnetic Resonance Spectroscopy: Basic Principles and Application in White Matter Disorders (2005) (14)
- Congenital Muscular Dystrophy of the Fukuyama Type (1989) (13)
- Erratum : Magnetic resonance imaging pattern recognition in hypomyelinating disorders (Brain (2010) 133 (2971-2982) DOI:10.1093/brain/awq257) (2013) (13)
- Classification of Myelin Disorders (1995) (13)
- Functional MRI of visual cortex in sedated 18 month‐old infants with or without periventricular leukomalacia (2001) (13)
- Pattern Recognition in White Matter Disorders (1995) (12)
- Association of WKL1/MLC1 with catatonic schizophrenia (2002) (11)
- Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2017) (11)
- Central Pontine and Extrapontine Myelinolysis (1989) (11)
- TUBB4A -Related Leukodystrophy (2016) (11)
- A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy (2014) (10)
- Diffuse leukoencephalopathy with spheroids: Biopsy findings and a novel mutation (2014) (10)
- Mycotic encephalitis: predilection for grey matter (2004) (10)
- Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria (2009) (9)
- Urea Cycle Defects (1995) (8)
- X-linked Adrenoleukodystrophy (1995) (8)
- Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (2005) (7)
- MRI of a family with leukoencephalypathy with vanishing white matter (2005) (6)
- White Matter and Myelin (1989) (6)
- Pattern Recognition in Magnetic Resonance Imaging of Myelin Disorders (1989) (6)
- Neuroimaging in lissencephaly type I (2004) (5)
- Congenital and Perinatal Cytomegalovirus Infection (2005) (5)
- Maple Syrup Urine Disease (1995) (5)
- LAMA2 mutations in adult‐onset muscular dystrophy with leukoencephalopathy (2014) (5)
- Congenital Muscular Dystrophy (1995) (5)
- Wallerian Degeneration and Demyelination Secondary to Neuronal and Axonal Degeneration (1989) (5)
- Multiple Sclerosis, Neuromyelitis Optica, Concentric Sclerosis, and Schilder’s Diffuse Sclerosis (1989) (5)
- Disorders of Amino Acid and of Organic Acid Metabolism (1989) (5)
- Magnetic Resonance Spectroscopy, Basic Principles, and Application in Myelin Disorders (1989) (5)
- Progressive Multifocal Leukoencephalitis (1989) (5)
- Post-Hypoxic-Ischemic Encephalopathy of Neonates (2005) (5)
- PRELIMINARY REVISIONS OF SOME GENERA OF MALAYSIAN IPILIONACEAE V - A CENSUS OF THE GENUS DESMODIUM (2014) (4)
- Glutaric Aciduria Type 1 (1995) (4)
- Various Organic Acidurias (2003) (4)
- Functional MRI of the Visual Cortex in Sedated Children with Periventricular Echodensities. (1998) (4)
- Pelizaeus-Merzbacher Disease and X-linked Spastic Paraplegia Type 2 (2005) (4)
- Delayed Posthypoxic Leukoencephalopathy of Maturity (1995) (4)
- Peroxisomes and Peroxisomal Disorders (1989) (4)
- Late onset vanishing white matter disease presenting with learning difficulties (2012) (4)
- Patterns of myelin breakdown (1999) (3)
- Book: Magnetic Resonance of Myelination and Myelin Disorders (2005) (3)
- Neuronal Ceroid Lipofuscinoses (1995) (3)
- PRELIMINARY REVISIONS OF SOME GENERA OF MALAYSIAN PAPILIONACEAE IV - A REVISION OF ORMOSIA (2014) (3)
- Multiple motor system dysfunction associated with a heterozygous ceruloplasmin gene mutation (2008) (3)
- Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy (2018) (3)
- Mitochondria and Mitochondrial Disorders (1995) (3)
- Delayed Posthypoxic Leukoencephalopathy (2005) (2)
- Lysosomes and Lysosomal Disorders (1989) (2)
- Basic Principles of Magnetic Resonance Imaging and its Application in Myelin Disorders (1989) (2)
- Leukoencephalopathy after Chemotherapy and/or Radiotherapy (1989) (2)
- Progressive Rubella Panencephalitis (1989) (2)
- Infantile-Onset Leukoencephalopathy with Swelling and a Discrepantly Mild Clinical Course (1995) (2)
- 96 The Leukoencephalopathies of Childhood: Findings From a National Prospective Study (2010) (1)
- Conditions Mimicking Multiple Sclerosis on MRI (1995) (1)
- Magnetic resonance in childhood white‐matter disorders: The 2001 Ronnie Mac Keith Lecture (2001) (1)
- 1 4 H leukodystrophy : a brain MRI scoring system (2017) (1)
- Posthypoxic-Ischemic Damage (1995) (1)
- Leukoencephalopathy, Cerebral Calcifications, and Chronic Cerebrospinal Fluid Lymphocytosis (Aicardi-Goutières Syndrome) (1995) (1)
- Erratum: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance (Brain (2016) 139 (782-794) DOI: 10.1093/brain/awv392) (2018) (1)
- Other Toxic and Metabolic Leukoencephalopathies (1989) (1)
- Iatrogenic Toxic Encephalopathies (2005) (1)
- Congenital Muscular Dystrophies (2005) (1)
- O-29-423 The effect of ICP on myelination and the relationship with neurodevelopment in infantile hydrocephalus (1997) (1)
- Astrocytic MLC1 involved in brain water homeostasis and myeline integrity (2013) (1)
- Childhood Ataxia with Diffuse Cerebral Hypomyelination (1995) (1)
- Cerebral Edema and Fluid Compartments in the CNS (1995) (1)
- Defects of Mitochondrial DNA (1995) (1)
- Early magnetic resonace imaging compared to ultrasound in neonates with periventricular leukmalacia (1997) (1)
- Reply to: The many faces of TUBB4A mutations (2014) (1)
- INV29 Mitochondrial aspartyl-tRNA synthetase deficiency causes “Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation” (2007) (1)
- Wolman’s Disease and Cholesterol Ester Storage Disease (1989) (1)
- Cerebral Organic Acidurias (2014) (1)
- Patient With Unilateral White Matter Involvement Does Not Have Krabbe Disease (2011) (1)
- The significance of MRI in myelin disorders (1994) (1)
- Other Infections of the Brain (1989) (1)
- OP3 – 2232: Phenotype and genotype in 212 patients with megalencephalic leukoencephalopathy with subcortical cysts: New insights in the disease spectrum (2015) (1)
- Pseudo-neonatal Adrenoleukodystrophy (1989) (0)
- Epilepsy and abnormal potassium dynamics upon loss of function of the astrocyte specific protein MLC1 (2017) (0)
- Hypomylination and atrophy of the basal ganglia and cerebellum, a new syndrome:case report (2004) (0)
- OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures (2015) (0)
- Retinopathy and optic atrophy: expanding phenotypic spectrum of AARS2 gene mutations (2016) (0)
- Scientific Meeting of Netherlands Society of Neurology Held in Amersfoort, 9th and 10th December 1988 (1989) (0)
- Clinical, biochemical and molecular findings in 16 patients with GAMT deficiency (2004) (0)
- GM 1 Gangliosidosis (1989) (0)
- Progressive Multifocal Leukoencephalopathy (2005) (0)
- 034 Chromosomal location of vanishing white matter (1999) (0)
- Clinical and functional consequences of C-terminal variants in MCT8 (2020) (0)
- GM 3 Gangliosidosis (1989) (0)
- Astrocyte-forebrain co-cultures: an in vitro model for studying the role of astrocytes in childhood white matter disorders (2013) (0)
- Posthypoxic-Ischemic Leukoencephalopathy of Neonates (1995) (0)
- Infantile Alexander Disease mimicking multilocular astrocytoma (2010) (0)
- Diffuse Axonal Injury (2005) (0)
- Rare neurodegenerative and neurometabolic diseases with white matter involvement (2008) (0)
- Multiple Sulfatase Deficiency (1995) (0)
- MLP027 Serial magnetic resonance imaging and spectroscopy in mitochondrial encephalopathy due to complex I deficiency and NDUFV1 gene mutations (2007) (0)
- P18.3 Restricted diffusion in vanishing white matter (2011) (0)
- MR Definition of Novel White Matter Disorders (2009) (0)
- Vanishing White Matter Disease - report on first case in Croatia (2011) (0)
- Diversity in MRI findings in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (2013) (0)
- Expanded Phenotype of GFPT1-related Disorder is a Mimicker of Mitochondrial Leukoencephalopathy (2019) (0)
- Magnetic Resonance Imaging and a classification of congenital malformations of the central nervous system (1988) (0)
- MATURATION DEFECTS OF GLIA PROGENITORS IN VANISHING WHITE MATTER (2009) (0)
- Leukoencephalopathy After Radiotherapy and Chemotherapy (2005) (0)
- Adult Polyglucosan Body Disease (2005) (0)
- Table 1. [Summary of Molecular Genetic Testing...]. (2011) (0)
- Polymorphisms in the eIF2B genes as risk factor for the development of Multiple Sclerosis in general and more in particular for heat sensitivity in Multiple Sclerosis (2005) (0)
- 1FC3.2 Clinical and radiological features of COL4A1 mutations (2011) (0)
- Leber Hereditary Optic Neuropathy (2005) (0)
- Erratum to: Expansion of the spectrum of TUBB4A-related disorders: A new phenotype associated with a novel mutation in the TUBB4A gene (2014) (0)
- MR imaging in the classification of congenital muscular dystrophies with brain abnormalities (1997) (0)
- Chapter 11 Update on leukodystrophies : origin , evolution and two revolutions (2016) (0)
- [Acquired immunodeficiency syndrome]. (1983) (0)
- X-gebonden mentale retardatie door creatine transporter defect (2006) (0)
- BRAIN HISTOPATHOLOGY IN LEUKOENCEPHALOPATHY DUE TO MLC1 GENE MUTATION (2006) (0)
- Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (Nasu-Hakola Disease) (2005) (0)
- Fabry's disease. (1967) (0)
- Inflammatory and Infectious Disorders (2005) (0)
- Refsum’s Disease (1989) (0)
- Pathogenesis and molecular biology of leukodystrophies (2008) (0)
- Figure 1. [Brain images of an individual...]. (2011) (0)
- Pattern Recognition in MR Images of Myelin Disorders (1989) (0)
- Magnetic resonance imaging of normal myelination (1991) (0)
- Pyruvate Carboxylase Deficiency (1995) (0)
- Polyol metabolism and neurotoxicity in inherited metabolic diseases (1999) (0)
- The influence of Vanishing White Matter mutations on oligodendrocyte differentiation (2013) (0)
- Plasma exchange in hands of the neurologist (1986) (0)
- Table 3. [Selected HEPACAM Allelic Variants]. (2011) (0)
- Myotonic Dystrophy Type 2 (2005) (0)
- P279 Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in Turkish population (2009) (0)
- X-linked Charcot-Marie-Tooth disease (2020) (0)
- The natural disease course of Vanishing White Matter (2017) (0)
- Basal nuclei are not involved in early metachromatic leukodystrophy (2023) (0)
- PP12.11 – 2550: Atypical forms of 4H leukodystrophy (2015) (0)
- White matter disorders in children: from magnetic resonance to basic defect (2006) (0)
- Scientific meeting of the Amsterdamsche Neurologenvereeniging held in Amsterdam, 5th of November 1987 (1988) (0)
- Table 2. [Selected DARS2 Pathogenic Variants]. (2015) (0)
- Vanishing white matter disease, a new leukoencephalopathy. Case report of 3 patients (2004) (0)
- Human Parechovirus Encephalitis As an Important Differential Diagnosis of White Matter Lesions in Neonatal Sepsis-Like Illness (2014) (0)
- Myotonic Dystrophy Type 1 (2005) (0)
- Selective brain damage in perinatal hypoxia-ischemia (1991) (0)
- Pseudo-neonatal Adrenoleukodystrophy, Trifunctional Protein Deficiency, and Pseudo-Zellweger Syndrome (1995) (0)
- The multiple faces of TUBB4A mutations: from hypomyelination to adult dystonia (2017) (0)
- Posterior Reversible Encephalopathy Syndrome (2005) (0)
- Table 2. [Selected MLC1 Allelic Variants]. (2011) (0)
- Cavitating leukoencephalopathy with posterior predominance caused by a deletion in the APOPT 1 gene in an Indian boy Running title : APOPT 1 gene pathogenic variant associated cavitating leukoencephalopathy (2018) (0)
- Towards understanding the underlying mechanism of vanishing white matter disease (2013) (0)
- 033 Polyols and a novel leukoencephalopathy (1999) (0)
- Inherited metabolic defects in pentose and polyol metabolism (2005) (0)
- Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in Vanishing White Matter disease (2013) (0)
- P10.2 Severity of vanishing white matter does not correlate with biochemical deficits in eIF2B function (2011) (0)
- Inherited white matter disorders (1997) (0)
- Author response to Saute et al. (2018) (0)
- P305 Are hypomyelination and hypomyelination the same? Clinical variation in children with lack of myelin (2009) (0)
- 4PS3.1 Mutant GlialCAM causes Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), benign familial macrocephaly, and macrocephaly with mental retardation with or without autism (2011) (0)
- Zellweger Cerebrohepatorenal Syndrome, Neonatal Adrenoleukodystrophy, and Infantile Refsum Disease (1995) (0)
- Disease of the vanishing white matter (1997) (0)
- Donor macrophages and remyelination in metachromatic leukodystrophy (2017) (0)
- UFM1 founder mutation in the Roma population causes severe variant of Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC) (2018) (0)
- OP2 – 2264: The effectiveness of hematopoietic cell transplantation (HCT) in metachromatic leukodystrophy (MLD): Promising results (2015) (0)
- Periventicular signal change on MRI in preterm infants, does it have clinical significance? (1998) (0)
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Study of the phenotype and genotype and their correlation (2013) (0)
- Vitamin B 12 Deficiency (1989) (0)
- Vanishing white matter disease (CACH syndrome) (2014) (0)
- Nucleus, DNA, and DNA Repair (1995) (0)
- Megalencephalic leukoencephalopathy with subcortical cysts : defect in chloride currents and cell volume regulation (2013) (0)
- Other Hypoxic-Ischemic White Matter Lesions (1989) (0)
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