Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. S. van der Knaap · SciRah

Researcher profile · Semantic Scholar

M. S. van der Knaap

Share profile

M. S. van der Knaap — researcher profile on SciRah

h-index: 95
Works: 728
Citations: 31K

Most-cited papers

Biallelic PI4KA variants cause neurological, intestinal and immunological disease
C. Salter, Yi-Ying Cai, Bernice Lo, G. Helman +41 more
2021Brain : a journal of neurology50 citations Open access
Semantic Scholar
Heterogeneity of white matter astrocytes in the human brain
M. Bugiani, Bonnie C. Plug, J. H. Man, M. Breur +1 more
2021Acta Neuropathologica42 citations
Semantic Scholar
Imaging Patterns Characterizing Mitochondrial Leukodystrophies
S. D. Roosendaal, T. van de Brug, C. Alves, S. Blaser +3 more
2021American Journal of Neuroradiology41 citations Open access
Semantic Scholar
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Shanice Beerepoot, H. Heijst, B. Roos, M. Wamelink +7 more
2021Brain : a journal of neurology41 citations Open access
Semantic Scholar
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
W. Berdowski, H. C. van der Linde, M. Breur, N. Oosterhof +13 more
2022Acta Neuropathologica37 citations Open access
Semantic Scholar
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
E. Passchier, Sven Kerst, Eelke Brouwers, E. M. Hamilton +20 more
2023Brain : a journal of neurology31 citations Open access
Semantic Scholar
Neuron‐specific translational control shift ensures proteostatic resilience during ER stress
Kimberly Wolzak, A. Nölle, M. Farina, T. Abbink +3 more
2022EMBO Journal30 citations Open access
Semantic Scholar
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
Inna Slynko, Stephanie Nguyen, E. M. Hamilton, L. Wisse +6 more
2021Molecular Genetics & Genomic Medicine27 citations Open access
Semantic Scholar
Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies
Bonnie C. Plug, Ilma M. Revers, M. Breur, G. González +11 more
2024Acta Neuropathologica Communications26 citations Open access
Semantic Scholar
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
D. Schoenmakers, Shanice Beerepoot, I. Krägeloh-mann, Saskia Elgün +4 more
2022Annals of Clinical and Translational Neurology25 citations Open access
Semantic Scholar
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
E. Passchier, Quinty Bisseling, G. Helman, R. V. van Spaendonk +6 more
2024Frontiers in Genetics22 citations Open access
Semantic Scholar
MRI Natural History of the Leukodystrophy Vanishing White Matter.
M. Stellingwerff, M. Al-Saady, T. van de Brug, F. Barkhof +2 more
2021Radiology21 citations Open access
Semantic Scholar
Imaging in X-Linked Adrenoleukodystrophy
S. V. D. van de Stadt, I. C. Huffnagel, Bela Turk, M. S. van der Knaap +1 more
2021Neuropediatrics21 citations Open access
Semantic Scholar
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency
M. Scala, Saskia B. Wortmann, N. Kaya, M. Stellingwerff +71 more
2022Human Mutation20 citations Open access
Semantic Scholar
Guanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1
Diede Witkamp, E. Oudejans, Gino V. Hu-A-Ng, L. Hoogterp +8 more
2022Annals of Clinical and Translational Neurology20 citations Open access
Semantic Scholar
Therapy Trial Design in Vanishing White Matter
M. S. van der Knaap, J. Bonkowsky, A. Vanderver, R. Schiffmann +11 more
2022Neurology: Genetics20 citations Open access
Semantic Scholar
Region-specific and age-related differences in astrocytes in the human brain.
J. H. Man, M. Breur, C. V. van Gelder, Gabriella Marcon +5 more
2024Neurobiology of Aging19 citations Open access
Semantic Scholar
Quantitative MRI in leukodystrophies
M. Stellingwerff, P. Pouwels, S. D. Roosendaal, F. Barkhof +1 more
2023NeuroImage: Clinical19 citations Open access
Semantic Scholar
DTYMK is essential for genome integrity and neuronal survival
J. Vanoevelen, J. Bierau, Janine A. C. Grashorn, E. Lambrichs +16 more
2021Acta Neuropathologica18 citations Open access
Semantic Scholar
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases
D. Schoenmakers, Sibren van den Berg, L. Timmers, L. Adang +28 more
2024Neurology16 citations Open access
Semantic Scholar
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy
M. Al-Saady, C. Kaiser, Felipe Wakasuqui, G. Korenke +8 more
2021Neuropediatrics16 citations Open access
Semantic Scholar
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants
M. Stellingwerff, Corinne Nulton, G. Helman, S. D. Roosendaal +6 more
2022Neuropediatrics15 citations Open access
Semantic Scholar
A novel role for MLC1 in regulating astrocyte–synapse interactions
M. Kater, Katharina F. Baumgart, Aina Badia-Soteras, Tim S. Heistek +8 more
2023Glia13 citations Open access
Semantic Scholar
Pathology of the neurovascular unit in leukodystrophies
Parand Zarekiani, M. Breur, N. Wolf, H. D. de Vries +2 more
2021Acta Neuropathologica Communications13 citations Open access
Semantic Scholar
Treatment of leukodystrophies: Advances and challenges.
N. Wolf, M. S. van der Knaap, Marc Engelen
2025European journal of paediatric neurology12 citations Open access
Semantic Scholar
Vanishing white matter.
M. S. van der Knaap, M. Bugiani, T. Abbink
2024Handbook of Clinical Neurology12 citations
Semantic Scholar
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
M. Al-Saady, Shanice Beerepoot, Bonnie C. Plug, M. Breur +10 more
2023Annals of Clinical and Translational Neurology12 citations Open access
Semantic Scholar
Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy.
Shanice Beerepoot, N. Wolf, Katharina Wehner, Benjamin Bender +3 more
2022European journal of paediatric neurology12 citations Open access
Semantic Scholar
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
F. Gavazzi, Brittany Charsar, E. Hamilton, Jacqueline A. Erler +39 more
2025Molecular Genetics and Metabolism10 citations Open access
Semantic Scholar
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
C. G. Bergner, M. Breur, M. C. Soto-Bernardini, Lisa Schäfer +13 more
2024Brain : a journal of neurology10 citations Open access
Semantic Scholar
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
M. Bugiani, T. Abbink, Arthur W. D. Edridge, L. van der Hoek +10 more
2023Annals of Clinical and Translational Neurology10 citations Open access
Semantic Scholar
In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice
Désirée Böck, Ilma M. Revers, Anastasia S J Bomhof, Anne E. J. Hillen +7 more
2024Molecular Therapy9 citations Open access
Semantic Scholar
Adaptive behavior assessed by Vineland‐3 as comprehensive outcome measure in vanishing white matter
D. Schoenmakers, Irene van Beelen, M. Voermans, Denise Perik +4 more
2024Annals of Clinical and Translational Neurology8 citations Open access
Semantic Scholar
Gross Motor function in pediatric onset TUBB4A-related Leukodystrophy: GMFM-88 performance and validation of GMFC-MLD in TUBB4A
F. Gavazzi, Virali Patel, Brittany Charsar, A. Glanzman +18 more
2023Journal of Child Neurology8 citations Open access
Semantic Scholar
Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures
M. Stellingwerff, M. Al-Saady, Kwok-Shing Chan, A. Dvorak +10 more
2024European Radiology7 citations Open access
Semantic Scholar
Regional vulnerability of brain white matter in vanishing white matter
J. H. Man, C. V. van Gelder, M. Breur, D. Molenaar +4 more
2023Acta Neuropathologica Communications7 citations Open access
Semantic Scholar
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
D. Schoenmakers, P. Leferink, A. Vanderver, J. Bonkowsky +16 more
2023BMC Neurology7 citations Open access
Semantic Scholar
In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9
Anne E. J. Hillen, M. Hrůzová, Tanja Rothgangl, M. Breur +4 more
2022Molecular Therapy: Methods & Clinical Development7 citations Open access
Semantic Scholar
Cortical Pathology in Vanishing White Matter
J. H. Man, C. V. van Gelder, M. Breur, Daniel Okkes +6 more
2022Cells7 citations Open access
Semantic Scholar
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
Hemmo A. F. Yska, M. Stellingwerff, S. D. Roosendaal, M. Voermans +3 more
2025Brain Communications6 citations Open access
Semantic Scholar
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
F. Klouwer, S. D. Roosendaal, C. Hollak, M. Langeveld +5 more
2024Orphanet Journal of Rare Diseases6 citations Open access
Semantic Scholar
Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders
M. Stellingwerff, M. Al-Saady, Kwok-Shing Chan, A. Dvorak +7 more
2023Journal of Neuroimaging6 citations Open access
Semantic Scholar
Impaired Volume Regulation and Electrophysiology of Astrocytes In Situ in a Mouse Model for Megalencephalic Leukoencephalopathy With Subcortical Cysts
Sven Kerst, Nina Meesters, Tim S. Heistek, M. S. van der Knaap +2 more
2025Glia5 citations Open access
Semantic Scholar
Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
Shanice Beerepoot, J. Verbeke, M. Plantinga, S. Nierkens +4 more
2024American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy
M. Al-Saady, Hristina Galabova, D. Schoenmakers, Shanice Beerepoot +5 more
2024Journal of Inherited Metabolic Disease5 citations Open access
Semantic Scholar
LBSL
M. Stellingwerff, Sonia Figuccia, E. Bellacchio, K. Álvarez +18 more
2021Neurology: Genetics5 citations Open access
Semantic Scholar
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations
C. Stutterd, A. Kidd, C. Florkowski, E. Janus +12 more
2021American Journal of Medical Genetics. Part A5 citations Open access
Semantic Scholar
Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1
Shanice Beerepoot, Lucas Grinwis, A. Vanderver, M. S. van der Knaap +1 more
2025Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter
Javier Triñanes-Ramos, Marianna Bugiani, Gemma M. van Rooijen-van Leeuwen, Juliette A Chevalier +11 more
2025Brain : a journal of neurology4 citations Open access
Semantic Scholar
MRI pattern recognition in white matter disease.
N. Wolf, M. Engelen, M. S. van der Knaap
2024Handbook of Clinical Neurology4 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

M. Bugiani×15
Invite
M. Bugiani — researcher profile on SciRah
N. Wolf×12
Invite
N. Wolf — researcher profile on SciRah
M. Breur×12
Invite
M. Breur — researcher profile on SciRah
T. Abbink×11
Invite
T. Abbink — researcher profile on SciRah

M. Stellingwerff

×11

Invite

M. Stellingwerff — researcher profile on SciRah

Invite

P. Pouwels — researcher profile on SciRah

A. Vanderver×8

Invite

A. Vanderver — researcher profile on SciRah

Shanice Beerepoot×8

Invite

Shanice Beerepoot — researcher profile on SciRah

Invite

N. Wolf — researcher profile on SciRah

D. Schoenmakers×6

Invite

D. Schoenmakers — researcher profile on SciRah

Invite

M. Al-Saady — researcher profile on SciRah

Invite

G. Helman — researcher profile on SciRah