M. S. van der Knaap

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M S Van Der Knaap, Marjo S. Van Der Knaap, M. S. Van Der Knaap, Marjo S Van Der Knaap, M Van Der Knaap, M. Van Der Knaap, M.s. Van Der Knaap, Marjo Van Der Knaap, Ms Van Der Knaap
Publication record
389 papers · 18,750 citations · H-index 76

PAPERS

Family C orphan GPRC5B in megalencephalic leukoencephalopathy: from genetics to ligand discovery
20260 citationsauthor #4
Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis.
20260 citationsauthor #5
Astrocyte-specific deletion of LRRC8A causes neurological dysfunction but not chronic white matter edema.
20260 citationsauthor #8
Effect of Propofol and Sevoflurane on Vanishing White Matter Models.
20251 citationsauthor #14
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective.
20251 citationsauthor #14
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
20257 citationsauthor #40
Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter
20252 citationsauthor #15
Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
20250 citationsauthor #9
Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1
20251 citationsauthor #4
Hypomyelination of Early Myelinating Brain Structures
20250 citationsauthor #8
Cognitive and intellectual functioning in leukodystrophy patients: a systematic review
20250 citationsauthor #2
ARSA Variants Associated With Cognitive Decline and Long‐Term Preservation of Motor Function in Metachromatic Leukodystrophy
20250 citationsauthor #20
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter
20250 citationsauthor #38
Correction to: Optimising diagnostics for hard-of-hearing infants: factors associated with successful MRI scanning without general anaesthesia
20250 citationsauthor #7
Optimising diagnostics for hard-of-hearing infants: factors associated with successful MRI scanning without general anaesthesia
20250 citationsauthor #7
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
20250 citationsauthor #16
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
20252 citationsauthor #5
Endogenous Repair in Vanishing White Matter
20250 citationsauthor #8
Draining the brain: Gene therapy reverses brain edema in mice with the leukodystrophy MLC.
20250 citationsauthor #3
Gene supplementation in Vanishing White Matter mice ameliorates the disease
20250 citationsauthor #3
The impact of vanishing white matter on unaffected family members
20252 citationsauthor #9
Treatment of leukodystrophies: Advances and challenges.
20255 citationsauthor #2
Impaired Volume Regulation and Electrophysiology of Astrocytes In Situ in a Mouse Model for Megalencephalic Leukoencephalopathy With Subcortical Cysts
20252 citationsauthor #4
Obituary: Jacob Valk
20240 citationsauthor #1
Pridopidine subtly ameliorates motor skills in a mouse model for vanishing white matter
20243 citationsauthor #10
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy
20244 citationsauthor #7
The natural history of variable subtypes in pediatric-onset TUBB4A-related disorders
20240 citationsauthor #16
Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures
20243 citationsauthor #14
Typical and atypical MRI patterns of rare brain disorders: The challenge of low numbers
20240 citationsauthor #3
Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell development.
20242 citationsauthor #3
Amino-acyl tRNA synthetases associated with leukodystrophy.
20241 citationsauthor #2
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
20242 citationsauthor #8
Case report: Spontaneous improvement and treatment considerations in leukoencephalopathy with calcifications and cysts.
20242 citationsauthor #4
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
202411 citationsauthor #9
Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series
20241 citationsauthor #7
Effect of seizures on the severity of myelin vacuolization in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts
20240 citationsauthor #5
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases
202411 citationsauthor #23
In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice
20245 citationsauthor #9
Vanishing white matter.
202414 citationsauthor #1
Lithium: effects in animal models of vanishing white matter are not promising
20242 citationsauthor #9
Adaptive behavior assessed by Vineland‐3 as comprehensive outcome measure in vanishing white matter
20244 citationsauthor #8
Jacob Valk, MD, PhD
20240 citationsauthor #1
Megalencephalic Leukoencephalopathy With Subcortical Cysts in an Adult.
20240 citationsauthor #2
MRI pattern recognition in white matter disease.
20241 citationsauthor #3
Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies
202412 citationsauthor #14
Region-specific and age-related differences in astrocytes in the human brain.
202412 citationsauthor #8
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
20247 citationsauthor #17
Proteomic dissection of vanishing white matter pathogenesis
20241 citationsauthor #8
Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characterization of a case and literature review.
20241 citationsauthor #11
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
20234 citationsauthor #20
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
202319 citationsauthor #24
Quantitative MRI in leukodystrophies
202315 citationsauthor #5
ISR mRNAs as potential blood biomarkers in patients with vanishing white matter
20230 citationsauthor #7
Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders
20235 citationsauthor #10
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
20238 citationsauthor #13
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
20238 citationsauthor #14
Basal nuclei are not involved in early metachromatic leukodystrophy.
20230 citationsauthor #3
Reply to “Type I IFN Signature in NOTCH1‐Related Leukoencephalopathy”
20232 citationsauthor #3
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A
20234 citationsauthor #19
Regional vulnerability of brain white matter in vanishing white matter
20236 citationsauthor #8
Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1
202216 citationsauthor #11
Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy.
202212 citationsauthor #5
Rapidly progressive dementias — leukodystrophies as a potentially treatable cause
20221 citationsauthor #3
Reply:
20220 citationsauthor #2
Cortical Pathology in Vanishing White Matter
20226 citationsauthor #9
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy
20224 citationsauthor #24
Neuron‐specific translational control shift ensures proteostatic resilience during ER stress
202217 citationsauthor #5
Early-onset vascular leukoencephalopathy caused by bi-allelic NOTCH3 variants
202211 citationsauthor #10
Therapeutic potential of human stem cell transplantations for Vanishing White Matter: A quest for the Goldilocks graft
20221 citationsauthor #6
In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9
20227 citationsauthor #6
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
202234 citationsauthor #14
Expanding the Spectrum of NUBPL -Related Leukodystrophy
20222 citationsauthor #8
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
20224 citationsauthor #26
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
202217 citationsauthor #6
Therapy Trial Design in Vanishing White Matter
202215 citationsauthor #1
Heterogeneity of white matter astrocytes in the human brain
202134 citationsauthor #5
Expanded phenotype of AARS1-related white matter disease
202113 citationsauthor #35
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
20214 citationsauthor #15
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
202132 citationsauthor #7
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
202134 citationsauthor #9
Neonatal quantitative electroencephalography and long‐term outcomes: a systematic review
202119 citationsauthor #6
LBSL
20216 citationsauthor #22
Pathology of the neurovascular unit in leukodystrophies
202111 citationsauthor #5
Biallelic PI4KA variants cause neurological, intestinal and immunological disease
202139 citationsauthor #36
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
202112 citationsauthor #9
MRI Natural History of the Leukodystrophy Vanishing White Matter.
202118 citationsauthor #6
DTYMK is essential for genome integrity and neuronal survival
202117 citationsauthor #8
Pathology of the neurovascular unit in leukodystrophies
20210 citationsauthor #5
Translation initiation factor eIF2Bε promotes Wnt-mediated clonogenicity and global translation in intestinal epithelial cells.
20213 citationsauthor #10
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
202126 citationsauthor #10
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
202113 citationsauthor #25
Imaging in X-Linked Adrenoleukodystrophy
202118 citationsauthor #4
Isocaloric low protein diet in a mouse model for vanishing white matter does not impact ISR deregulation in brain, but reveals ISR deregulation in liver
20204 citationsauthor #7
[Alexander disease as an explanation for long-term unexplained psychiatric symptoms in a young girl].
20200 citationsauthor #2
Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
20201 citationsauthor #2
Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
202051 citationsauthor #10
Correction to: Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?
20200 citationsauthor #6
POLR3A variants with striatal involvement and extrapyramidal movement disorder
202035 citationsauthor #15
Genome sequencing in persistently unsolved white matter disorders
202033 citationsauthor #27
Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders
202019 citationsauthor #25

TIMELINE

1988 98 citations

1989 96 citations

1992 143 citations

1993 17 citations

1995 44 citations

1996 9 citations

1999 339 citations

2000 341 citations

2001 317 citations

2002 812 citations

2003 504 citations

2004 991 citations

2005 984 citations

2006 1,022 citations

2007 184 citations

2008 203 citations

2009 1,149 citations

2010 1,198 citations

2011 928 citations

2012 1,394 citations

2013 1,120 citations

2014 986 citations

2015 1,835 citations

2016 887 citations

2017 862 citations

2018 668 citations

2019 670 citations

2020 362 citations

2021 299 citations

2022 147 citations

2023 71 citations

2024 99 citations

2025 23 citations

2026 0 citations

Unknown 0 citations

M. S. van der Knaap

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