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M. Steenweg · SciRah

Researcher profile · Semantic Scholar

M. Steenweg

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M. Steenweg — researcher profile on SciRah

h-index: 17
Works: 34
Citations: 1,486

Most-cited papers

Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
M. Steenweg, A. Vanderver, S. Blaser, A. Bizzi +6 more
2010Brain : a journal of neurology280 citations Open access
Semantic Scholar
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
M. Steenweg, D. Ghezzi, T. Haack, T. Abbink +11 more
2012Brain : a journal of neurology219 citations Open access
Semantic Scholar
Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings
F. Mochel, R. Schiffmann, M. Steenweg, H. Akman +20 more
2012Annals of Neurology143 citations Open access
Semantic Scholar
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
M. Steenweg, C. Jakobs, A. Errami, S. V. van Dooren +47 more
2010Human Mutation120 citations Open access
Semantic Scholar
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
L. van Berge, E. M. Hamilton, T. Linnankivi, G. Uziel +18 more
2014Brain : a journal of neurology105 citations Open access
Semantic Scholar
Update on Leukodystrophies: A Historical Perspective and Adapted Definition
Sietske H. G. Kevelam, M. Steenweg, S. Srivastava, G. Helman +6 more
2016Neuropediatrics102 citations
Semantic Scholar
L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.
M. Steenweg, G. Salomons, Z. Yapıcı, G. Uziel +11 more
2009Radiology101 citations
Semantic Scholar
Clinical features and X‐inactivation in females heterozygous for creatine transporter defect
J. M. van de Kamp, G. Mancini, P. Pouwels, O. Betsalel +6 more
2011Clinical Genetics92 citations
Semantic Scholar
Early-Onset LBSL: How Severe Does It Get?
M. Steenweg, L. van Berge, C. V. van Berkel, I. D. de Coo +12 more
2012Neuropediatrics50 citations
Semantic Scholar
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Sietske H. G. Kevelam, J. Taube, R. V. van Spaendonk, E. Bertini +22 more
2015Annals of Clinical and Translational Neurology46 citations Open access
Semantic Scholar
Characteristics of Early MRI in Children and Adolescents with Vanishing White Matter
H. V. D. van der Lei, M. Steenweg, F. Barkhof, Ton de Grauw +5 more
2012Neuropediatrics33 citations Open access
Semantic Scholar
Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy
J. Tillema, M. Derks, P. Pouwels, P. de Graaf +5 more
2015Annals of Clinical and Translational Neurology29 citations Open access
Semantic Scholar
Novel hypomyelinating leukoencephalopathy affecting early myelinating structures.
M. Steenweg, N. Wolf, J. Schieving, M. Elsaid +5 more
2012Archives of Neurology28 citations Open access
Semantic Scholar
Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment
D. V. van Rappard, A. Klauser, M. Steenweg, J. Boelens +4 more
2017Journal of Neurology Neurosurgery & Psychiatry26 citations Open access
Semantic Scholar
Diffusion tensor imaging in metachromatic leukodystrophy
D. V. van Rappard, M. Königs, M. Steenweg, J. Boelens +4 more
2018Journal of Neurology24 citations Open access
Semantic Scholar
Restricted diffusion in vanishing white matter.
H. V. D. van der Lei, M. Steenweg, M. Bugiani, P. Pouwels +4 more
2012Archives of Neurology21 citations Open access
Semantic Scholar
Novel Infantile-Onset Leukoencephalopathy With High Lactate Level and Slow Improvement
M. Steenweg, A. Vanderver, B. Ceulemans, P. Prabhakar +8 more
2012Archives of Neurology18 citations Open access
Semantic Scholar
Strong Relation Between an EEG Functional Connectivity Measure and Postmenstrual Age: A New Potential Tool for Measuring Neonatal Brain Maturation
L. A. van de Pol, C. van 't Westende, I. Zonnenberg, E. Koedam +5 more
2018Frontiers in Human Neuroscience13 citations Open access
Semantic Scholar
Erratum : Magnetic resonance imaging pattern recognition in hypomyelinating disorders (Brain (2010) 133 (2971-2982) DOI:10.1093/brain/awq257)
M. Steenweg, A. Vanderver, S. Blaser, A. Bizzi +6 more
201312 citations Open access
Semantic Scholar
Quantitative MRI in hypomyelinating disorders
M. Steenweg, N. Wolf, W. V. van Wieringen, F. Barkhof +2 more
2016Neurology11 citations Open access
Semantic Scholar
Towards PErsonalised PRognosis for children with traumatic brain injury: the PEPR study protocol
C. Kooper, J. Oosterlaan, H. Bruining, M. Engelen +7 more
2022BMJ Open6 citations Open access
Semantic Scholar
Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, I. C. Huffnagel, M. Steenweg +3 more
2019Orphanet Journal of Rare Diseases6 citations Open access
Semantic Scholar
Neurocognitive Outcome After Pediatric Traumatic Brain Injury: Patient Subgroups With Diverging Outcome.
C. Kooper, M. Königs, M. Steenweg, M. Hunfeld +9 more
2026Pediatric Neurology2 citations Open access
Semantic Scholar
Safety and efficacy of guanabenz in early-childhood onset vanishing white matter: primary analysis of a single-arm, phase 1/2 trial.
M. S. van der Knaap, R. Verbeek, R. V. van Voorst, E. Gonzato +13 more
2026Lancet Neurology1 citations
Semantic Scholar
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Study of the phenotype and genotype and their correlation
E. M. Hamilton, L. van Berge, M. Steenweg, G. Scheper +3 more
20131 citations
Semantic Scholar
The Vanishing White Matter registry: a unique source of natural history data
M. Postema, R. V. van Voorst, E. M. Hamilton, D. Schoenmakers +4 more
2026medRxiv0 citations Open access
Semantic Scholar
Neurocognitive Network Organization in Children with Traumatic Brain Injury
C. Kooper, M. Königs, M. Steenweg, M. Hunfeld +9 more
2025Journal of Neurotrauma0 citations Open access
Semantic Scholar
Neurocognitive Outcome after Pediatric Traumatic Brain Injury: Patient Subgroups with Diverging Outcome
C. Kooper, M. KoÌnigs, M. Steenweg, M. Hunfeld +9 more
2024medRxiv0 citations Open access
Semantic Scholar
Chapter 11 Update on leukodystrophies : origin , evolution and two revolutions
Sietske H. G. Kevelam, M. Steenweg, S. Srivastava, S. Blaser +3 more
20160 citations
Semantic Scholar
OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures
Sietske H. G. Kevelam, J. Taube, R. V. van Spaendonk, E. Bertini +16 more
20150 citations
Semantic Scholar
Diversity in MRI findings in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
E. M. Hamilton, M. Steenweg, L. van Berge, G. Scheper +2 more
20130 citations
Semantic Scholar
O22 – 1585 New insights into the spectrum of phenotypes and genotypes in Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL)
E. M. Hamilton, L. van Berge, M. Steenweg, T. Linnankivi +8 more
20130 citations
Semantic Scholar
P18.3 Restricted diffusion in vanishing white matter
H. V. D. van der Lei, M. Steenweg, M. Bugiani, P. Pouwels +2 more
20110 citations
Semantic Scholar
P305 Are hypomyelination and hypomyelination the same? Clinical variation in children with lack of myelin
N. Wolf, M. Willemsen, D. Rating, E. Boltshauser +2 more
20090 citations
Semantic Scholar

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