| Year |
Citation |
Score |
| 2024 |
Beerepoot S, Verbeke JIML, Plantinga M, Nierkens S, Pouwels PJW, Wolf NI, Simons C, van der Knaap MS. Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings. American Journal of Medical Genetics. Part A. e63800. PMID 38934054 DOI: 10.1002/ajmg.a.63800 |
0.389 |
|
| 2024 |
Plug BC, Revers IM, Breur M, González GM, Timmerman JA, Meijns NRC, Hamberg D, Wagendorp J, Nutma E, Wolf NI, Luchicchi A, Mansvelder HD, van Til NP, van der Knaap MS, Bugiani M. Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies. Acta Neuropathologica Communications. 12: 83. PMID 38822428 DOI: 10.1186/s40478-024-01784-1 |
0.529 |
|
| 2024 |
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, ... ... van der Knaap MS, et al. Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy. Brain : a Journal of Neurology. PMID 38489591 DOI: 10.1093/brain/awae085 |
0.33 |
|
| 2024 |
Passchier EMJ, Bisseling Q, Helman G, van Spaendonk RML, Simons C, Olsthoorn RCL, van der Veen H, Abbink TEM, van der Knaap MS, Min R. Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature. Frontiers in Genetics. 15: 1352947. PMID 38487253 DOI: 10.3389/fgene.2024.1352947 |
0.523 |
|
| 2023 |
Stellingwerff MD, Al-Saady ML, Chan KS, Dvorak A, Marques JP, Kolind S, Roosendaal SD, Wolf NI, Barkhof F, van der Knaap MS, Pouwels PJW. Applicability of multiple quantitative magnetic resonance methods in genetic brain white matter disorders. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. PMID 37925602 DOI: 10.1111/jon.13167 |
0.478 |
|
| 2023 |
Man JHK, van Gelder CAGH, Breur M, Molenaar D, Abbink T, Altelaar M, Bugiani M, van der Knaap MS. Regional vulnerability of brain white matter in vanishing white matter. Acta Neuropathologica Communications. 11: 103. PMID 37349783 DOI: 10.1186/s40478-023-01599-6 |
0.334 |
|
| 2023 |
Stellingwerff MD, Pouwels PJW, Roosendaal SD, Barkhof F, van der Knaap MS. Quantitative MRI in leukodystrophies. Neuroimage. Clinical. 38: 103427. PMID 37150021 DOI: 10.1016/j.nicl.2023.103427 |
0.446 |
|
| 2023 |
Passchier EMJ, Kerst S, Brouwers E, Hamilton EMC, Bisseling Q, Bugiani M, Waisfisz Q, Kitchen P, Unger L, Breur M, Hoogterp L, de Vries SI, Abbink TEM, Kole MHP, Leurs R, ... ... van der Knaap MS, et al. Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema. Brain : a Journal of Neurology. PMID 37143309 DOI: 10.1093/brain/awad146 |
0.697 |
|
| 2023 |
Kater MSJ, Baumgart KF, Badia-Soteras A, Heistek TS, Carney KE, Timmerman AJ, van Weering JRT, Smit AB, van der Knaap MS, Mansvelder HD, Verheijen MHG, Min R. A novel role for MLC1 in regulating astrocyte-synapse interactions. Glia. PMID 37002718 DOI: 10.1002/glia.24368 |
0.636 |
|
| 2023 |
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. Expanding the Spectrum of NUBPL-Related Leukodystrophy. Neuropediatrics. PMID 36868263 DOI: 10.1055/s-0043-1764214 |
0.387 |
|
| 2022 |
Stellingwerff MD, van de Wiel MA, van der Knaap MS. Radiological correlates of episodes of acute decline in the leukodystrophy vanishing white matter. Neuroradiology. PMID 36574026 DOI: 10.1007/s00234-022-03097-3 |
0.303 |
|
| 2022 |
Berdowski WM, van der Linde HC, Breur M, Oosterhof N, Beerepoot S, Sanderson L, Wijnands LI, de Jong P, Tsai-Meu-Chong E, de Valk W, de Witte M, van IJcken WFJ, Demmers J, van der Knaap MS, Bugiani M, et al. Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy. Acta Neuropathologica. PMID 35713703 DOI: 10.1007/s00401-022-02440-5 |
0.359 |
|
| 2022 |
Bugiani M, Plug BC, Man JHK, Breur M, van der Knaap MS. Heterogeneity of white matter astrocytes in the human brain. Acta Neuropathologica. 143: 159-177. PMID 34878591 DOI: 10.1007/s00401-021-02391-3 |
0.373 |
|
| 2021 |
van de Stadt SIW, Huffnagel IC, Turk BR, van der Knaap MS, Engelen M. Imaging in X-Linked Adrenoleukodystrophy. Neuropediatrics. 52: 252-260. PMID 34192790 DOI: 10.1055/s-0041-1730937 |
0.302 |
|
| 2021 |
Stellingwerff MD, Al-Saady ML, van de Brug T, Barkhof F, Pouwels PJW, van der Knaap MS. MRI Natural History of the Leukodystrophy Vanishing White Matter. Radiology. 210110. PMID 34184934 DOI: 10.1148/radiol.2021210110 |
0.453 |
|
| 2021 |
Stutterd CA, Kidd A, Florkowski C, Janus E, Fanjul M, Raizis A, Wu TY, Archer J, Leventer RJ, Amor DJ, Lukic V, Bahlo M, Gow P, Lockhart PJ, van der Knaap MS, et al. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. American Journal of Medical Genetics. Part A. PMID 34089223 DOI: 10.1002/ajmg.a.62377 |
0.327 |
|
| 2021 |
Zarekiani P, Breur M, Wolf NI, de Vries HE, van der Knaap MS, Bugiani M. Pathology of the neurovascular unit in leukodystrophies. Acta Neuropathologica Communications. 9: 103. PMID 34082828 DOI: 10.1186/s40478-021-01206-6 |
0.306 |
|
| 2020 |
Wolf NI, Ffrench-Constant C, van der Knaap MS. Hypomyelinating leukodystrophies - unravelling myelin biology. Nature Reviews. Neurology. PMID 33324001 DOI: 10.1038/s41582-020-00432-1 |
0.311 |
|
| 2018 |
Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER, Groebner R, Zschocke J, van der Knaap MS. Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. Neurogenetics. PMID 30535813 DOI: 10.1007/s10048-018-0560-x |
0.364 |
|
| 2018 |
Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA. A brother and sister with intellectual disability and characteristic neuroimaging findings. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. PMID 29970281 DOI: 10.1016/j.ejpn.2018.06.005 |
0.322 |
|
| 2018 |
Bugiani M, Vuong C, Breur M, van der Knaap MS. Vanishing white matter: a leukodystrophy due to astrocytic dysfunction. Brain Pathology (Zurich, Switzerland). 28: 408-421. PMID 29740943 DOI: 10.1111/bpa.12606 |
0.384 |
|
| 2018 |
Min R, van der Knaap MS. Genetic defects disrupting glial ion and water homeostasis in the brain. Brain Pathology (Zurich, Switzerland). 28: 372-387. PMID 29740942 DOI: 10.1111/bpa.12602 |
0.558 |
|
| 2018 |
Min R, van der Knaap MS. Genetic defects disrupting glial ion and water homeostasis in the brain. Brain Pathology (Zurich, Switzerland). 28: 372-387. PMID 29740942 DOI: 10.1111/bpa.12602 |
0.558 |
|
| 2018 |
Min R, van der Knaap MS. Genetic defects disrupting glial ion and water homeostasis in the brain. Brain Pathology (Zurich, Switzerland). 28: 372-387. PMID 29740942 DOI: 10.1111/bpa.12602 |
0.558 |
|
| 2018 |
Min R, van der Knaap MS. Genetic defects disrupting glial ion and water homeostasis in the brain. Brain Pathology (Zurich, Switzerland). 28: 372-387. PMID 29740942 DOI: 10.1111/bpa.12602 |
0.558 |
|
| 2018 |
Dubey M, Brouwers E, Hamilton EMC, Stiedl O, Bugiani M, Koch H, Kole MHP, Boschert U, Wykes RC, Mansvelder HD, van der Knaap MS, Min R. Seizures and disturbed brain potassium dynamics in the leukodystrophy MLC. Annals of Neurology. PMID 29466841 DOI: 10.1002/Ana.25190 |
0.708 |
|
| 2017 |
Simons C, Dyment D, Bent SJ, Crawford J, D'Hooghe M, Kohlschütter A, Venkateswaran S, Helman G, Poll-The BT, Makowski CC, Ito Y, Kernohan K, Hartley T, Waisfisz Q, Taft RJ, ... ... van der Knaap MS, et al. A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. Brain : a Journal of Neurology. PMID 29186371 DOI: 10.1093/Brain/Awx314 |
0.306 |
|
| 2017 |
Bugiani M, Dubey M, Breur M, Postma NL, Dekker MP, Ter Braak T, Boschert U, Abbink TEM, Mansvelder HD, Min R, van Weering JRT, van der Knaap MS. Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model. Annals of Clinical and Translational Neurology. 4: 450-465. PMID 28695146 DOI: 10.1002/Acn3.405 |
0.756 |
|
| 2017 |
van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathologica. PMID 28638987 DOI: 10.1007/s00401-017-1739-1 |
0.367 |
|
| 2017 |
Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G, Wolf NI. 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. Neuropediatrics. 48: 152-160. PMID 28561206 DOI: 10.1055/S-0037-1599141 |
0.422 |
|
| 2017 |
Vrij-van den Bos S, Hol JA, La Piana R, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJ, van der Knaap MS, Bernard G, Wolf NI. 4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System. Neuropediatrics. PMID 28249300 DOI: 10.1055/s-0037-1599141 |
0.422 |
|
| 2017 |
Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A. Alexander Disease. Journal of Child Neurology. 32: 184-187. PMID 28112050 DOI: 10.1177/0883073816673263 |
0.314 |
|
| 2016 |
Theunissen TE, Szklarczyk R, Gerards M, Hellebrekers DM, Mulder-Den Hartog EN, Vanoevelen J, Kamps R, de Koning B, Rutledge SL, Schmitt-Mechelke T, van Berkel CG, van der Knaap MS, de Coo IF, Smeets HJ. Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. Frontiers in Neurology. 7: 203. PMID 27899912 DOI: 10.3389/fneur.2016.00203 |
0.367 |
|
| 2016 |
Steenweg ME, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS, Pouwels PJ. Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap. Neurology. PMID 27440150 DOI: 10.1212/Wnl.0000000000003000 |
0.311 |
|
| 2016 |
Dooves S, Bugiani M, Postma NL, Polder E, Land N, Horan ST, van Deijk AF, van de Kreeke A, Jacobs G, Vuong C, Klooster J, Kamermans M, Wortel J, Loos M, Wisse LE, ... ... van der Knaap MS, et al. Astrocytes are central in the pathomechanisms of vanishing white matter. The Journal of Clinical Investigation. PMID 26974157 DOI: 10.1172/JCI83908 |
0.368 |
|
| 2015 |
Kevelam SH, Klouwer FC, Fock JM, Salomons GS, Bugiani M, van der Knaap MS. Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL. Neuropediatrics. PMID 26619324 DOI: 10.1055/s-0035-1568987 |
0.381 |
|
| 2015 |
Tillema JM, Derks MG, Pouwels PJ, de Graaf P, van Rappard DF, Barkhof F, Steenweg ME, van der Knaap MS, Wolf NI. Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy. Annals of Clinical and Translational Neurology. 2: 932-40. PMID 26401514 DOI: 10.1002/Acn3.232 |
0.424 |
|
| 2015 |
Klok MD, Bakels HS, Postma NL, van Spaendonk RM, van der Knaap MS, Bugiani M. Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome. Annals of Clinical and Translational Neurology. 2: 774-9. PMID 26273690 DOI: 10.1002/acn3.213 |
0.341 |
|
| 2015 |
Dubey M, Bugiani M, Ridder MC, Postma NL, Brouwers E, Polder E, Jacobs JG, Baayen JC, Klooster J, Kamermans M, Aardse R, de Kock CP, Dekker MP, van Weering JR, Heine VM, ... ... van der Knaap MS, et al. Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle. Annals of Neurology. 77: 114-31. PMID 25382142 DOI: 10.1002/Ana.24307 |
0.771 |
|
| 2014 |
Hamilton EM, Polder E, Vanderver A, Naidu S, Schiffmann R, Fisher K, Raguž AB, Blumkin L, van Berkel CG, Waisfisz Q, Simons C, Taft RJ, Abbink TE, Wolf NI, ... van der Knaap MS, et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain : a Journal of Neurology. 137: 1921-30. PMID 24785942 DOI: 10.1093/brain/awu110 |
0.318 |
|
| 2014 |
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, ... ... van der Knaap MS, et al. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. American Journal of Medical Genetics. Part A. 164: 627-33. PMID 24375884 DOI: 10.1002/Ajmg.A.36309 |
0.352 |
|
| 2013 |
Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, ... ... van der Knaap MS, et al. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. The Lancet. Neurology. 12: 659-68. PMID 23707145 DOI: 10.1016/S1474-4422(13)70053-X |
0.401 |
|
| 2013 |
van Egmond ME, Pouwels PJ, Boelens JJ, Lindemans CA, Barkhof F, Steenwijk MD, van Hasselt PM, van der Knaap MS, Wolf NI. Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophy. Jama Neurology. 70: 779-82. PMID 23608771 DOI: 10.1001/Jamaneurol.2013.629 |
0.391 |
|
| 2013 |
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, ... van der Knaap MS, et al. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain : a Journal of Neurology. 136: 1534-43. PMID 23482991 DOI: 10.1093/brain/awt054 |
0.367 |
|
| 2013 |
Grooters GS, Visser LH, Barkhof F, van der Knaap MS, van Asseldonk JT. Mystery case: Baló concentric sclerosis. Neurology. 80: e71-2; discussion e7. PMID 23400322 DOI: 10.1212/Wnl.0B013E3182824E7D |
0.35 |
|
| 2013 |
Bugiani M, Postma N, Polder E, Dieleman N, Scheffer PG, Sim FJ, van der Knaap MS, Boor I. Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease. Brain : a Journal of Neurology. 136: 209-22. PMID 23365098 DOI: 10.1093/brain/aws320 |
0.813 |
|
| 2013 |
Tonduti D, Pichiecchio A, Wolf NI, Ariaudo G, van der Knaap MS, Bastianello S, Balottin U, Orcesi S. Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers. Neuropediatrics. 44: 213-7. PMID 23349001 DOI: 10.1055/s-0032-1333440 |
0.321 |
|
| 2012 |
van der Knaap MS, Boor I, Estévez R. Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. The Lancet. Neurology. 11: 973-85. PMID 23079554 DOI: 10.1016/S1474-4422(12)70192-8 |
0.812 |
|
| 2012 |
Steenweg ME, van Berge L, van Berkel CG, de Coo IF, Temple IK, Brockmann K, Mendonça CI, Vojta S, Kolk A, Peck D, Carr L, Uziel G, Feigenbaum A, Blaser S, Scheper GC, ... van der Knaap MS, et al. Early-onset LBSL: how severe does it get? Neuropediatrics. 43: 332-8. PMID 23065766 DOI: 10.1055/s-0032-1329395 |
0.364 |
|
| 2012 |
Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F, Laforêt P, Levy R, Powers JM, Demeret S, Maisonobe T, Froissart R, Da Nobrega BB, Fogel BL, Natowicz MR, ... ... van der Knaap MS, et al. Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. Annals of Neurology. 72: 433-41. PMID 23034915 DOI: 10.1002/Ana.23598 |
0.321 |
|
| 2012 |
Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JI, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS. A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity? Neuropediatrics. 43: 159-61. PMID 22610664 DOI: 10.1055/s-0032-1313912 |
0.304 |
|
| 2012 |
Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain : a Journal of Neurology. 135: 1387-94. PMID 22492562 DOI: 10.1093/brain/aws070 |
0.303 |
|
| 2012 |
van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ, Waterham HR, Ferdinandusse S. MRI as diagnostic tool in early-onset peroxisomal disorders. Neurology. 78: 1304-8. PMID 22459681 DOI: 10.1212/WNL.0b013e31825182dc |
0.333 |
|
| 2012 |
van der Lei HD, Steenweg ME, Barkhof F, de Grauw T, d'Hooghe M, Morton R, Shah S, Wolf N, van der Knaap MS. Characteristics of early MRI in children and adolescents with vanishing white matter. Neuropediatrics. 43: 22-6. PMID 22430157 DOI: 10.1055/S-0032-1307456 |
0.477 |
|
| 2012 |
Steenweg ME, Vanderver A, Ceulemans B, Prabhakar P, Régal L, Fattal-Valevski A, Richer L, Simonetti BG, Barkhof F, Rodenburg RJ, Pouwels PJ, van der Knaap MS. Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. Archives of Neurology. 69: 718-22. PMID 22312165 DOI: 10.1001/Archneurol.2011.1048 |
0.427 |
|
| 2012 |
van der Lei HD, Steenweg ME, Bugiani M, Pouwels PJ, Vent IM, Barkhof F, van Wieringen WN, van der Knaap MS. Restricted diffusion in vanishing white matter. Archives of Neurology. 69: 723-7. PMID 22312162 DOI: 10.1001/Archneurol.2011.1658 |
0.417 |
|
| 2012 |
Steenweg ME, Wolf NI, Schieving JH, Fawzi Elsaid M, Friederich RL, Ostergaard JR, Barkhof F, Pouwels PJ, van der Knaap MS. Novel hypomyelinating leukoencephalopathy affecting early myelinating structures. Archives of Neurology. 69: 125-8. PMID 22232354 DOI: 10.1001/Archneurol.2011.1030 |
0.483 |
|
| 2011 |
Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS. Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. Brain : a Journal of Neurology. 134: 3342-54. PMID 22006981 DOI: 10.1093/brain/awr255 |
0.802 |
|
| 2011 |
Steenweg ME, Pouwels PJ, Wolf NI, van Wieringen WN, Barkhof F, van der Knaap MS. Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Brain : a Journal of Neurology. 134: 3333-41. PMID 22006980 DOI: 10.1093/Brain/Awr254 |
0.402 |
|
| 2011 |
Van der Knaap MS, Wenger DA. Patient with unilateral white matter involvement does not have Krabbe disease. Archives of Neurology. 68: 1345. PMID 21987556 DOI: 10.1001/archneurol.2011.222 |
0.311 |
|
| 2011 |
van Egmond ME, Vermeulen RJ, Peeters-Scholte CM, Augoustides-Savvopoulou P, Abbink F, Boelens JJ, van der Knaap MS. Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging. Neuropediatrics. 42: 191-3. PMID 21959744 DOI: 10.1055/s-0031-1287788 |
0.305 |
|
| 2011 |
Vermeulen RJ, Peeters-Scholte C, Van Vugt JJ, Van Vught JJ, Barkhof F, Rizzu P, van der Schoor SR, van der Knaap MS. Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI. Neuropediatrics. 42: 1-3. PMID 21500141 DOI: 10.1055/S-0031-1275343 |
0.366 |
|
| 2011 |
Sharma S, Sankhyan N, Kumar A, Scheper GC, van der Knaap MS, Gulati S. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate. Journal of Child Neurology. 26: 773-6. PMID 21493805 DOI: 10.1177/0883073810390695 |
0.322 |
|
| 2011 |
Duarri A, Lopez de Heredia M, Capdevila-Nortes X, Ridder MC, Montolio M, López-Hernández T, Boor I, Lien CF, Hagemann T, Messing A, Gorecki DC, Scheper GC, Martínez A, Nunes V, van der Knaap MS, et al. Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model. Neurobiology of Disease. 43: 228-38. PMID 21440627 DOI: 10.1016/J.Nbd.2011.03.015 |
0.807 |
|
| 2011 |
Mierzewska H, van der Knaap MS, Scheper GC, Bekiesinska-Figatowska M, Szczepanik E, Jurkiewicz E. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient. Brain & Development. 33: 713-7. PMID 21277128 DOI: 10.1016/j.braindev.2010.12.005 |
0.3 |
|
| 2011 |
van der Voorn JP, Pouwels PJ, Powers JM, Kamphorst W, Martin JJ, Troost D, Spreeuwenberg MD, Barkhof F, van der Knaap MS. Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy. Ajnr. American Journal of Neuroradiology. 32: 481-9. PMID 21273354 DOI: 10.3174/Ajnr.A2327 |
0.455 |
|
| 2011 |
Bugiani M, Boor I, van Kollenburg B, Postma N, Polder E, van Berkel C, van Kesteren RE, Windrem MS, Hol EM, Scheper GC, Goldman SA, van der Knaap MS. Defective glial maturation in vanishing white matter disease. Journal of Neuropathology and Experimental Neurology. 70: 69-82. PMID 21157376 DOI: 10.1097/NEN.0b013e318203ae74 |
0.812 |
|
| 2011 |
Sharma S, Arya R, Raju KN, Kumar A, Scheper GC, van der Knaap MS, Gulati S. Vanishing white matter disease associated with ptosis and myoclonic seizures. Journal of Child Neurology. 26: 366-8. PMID 21115745 DOI: 10.1177/0883073810381529 |
0.4 |
|
| 2010 |
Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain : a Journal of Neurology. 133: 2971-82. PMID 20881161 DOI: 10.1093/Brain/Awq257 |
0.427 |
|
| 2010 |
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: a review. Journal of Neuropathology and Experimental Neurology. 69: 987-96. PMID 20838246 DOI: 10.1097/NEN.0b013e3181f2eafa |
0.795 |
|
| 2010 |
van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine MR, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC. Megalencephalic leukoencephalopathy with cysts without MLC1 defect. Annals of Neurology. 67: 834-7. PMID 20517947 DOI: 10.1002/ana.21980 |
0.32 |
|
| 2010 |
Anand G, Maheshwari N, Roberts D, Padeniya A, Hamilton-Ayers M, van der Knaap M, Fratter C, Jayawant S. X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode. Developmental Medicine and Child Neurology. 52: 677-9. PMID 20491857 DOI: 10.1111/j.1469-8749.2010.03674.x |
0.326 |
|
| 2010 |
Scheper GC, van Berkel CG, Leisle L, de Groot KE, Errami A, Jentsch TJ, Van der Knaap MS. Analysis of CLCN2 as candidate gene for megalencephalic leukoencephalopathy with subcortical cysts. Genetic Testing and Molecular Biomarkers. 14: 255-7. PMID 20187760 DOI: 10.1089/Gtmb.2009.0148 |
0.301 |
|
| 2009 |
van der Voorn JP, van der Voom JP, Pouwels PJ, Pouweis R, Vermeulen RJ, Barkhof F, van der Knaap MS, Van der Knaap M. Quantitative MR imaging and spectroscopy in congenital cytomegalovirus infection and periventricular leukomalacia suggests a comparable neuropathological substrate of the cerebral white matter lesions. Neuropediatrics. 40: 168-73. PMID 20135574 DOI: 10.1055/S-0029-1243228 |
0.439 |
|
| 2009 |
van der Voorn JP, Pouwels PJ, Salomons GS, Barkhof F, van der Knaap MS. Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. Neuroradiology. 51: 669-75. PMID 19484233 DOI: 10.1007/S00234-009-0540-9 |
0.459 |
|
| 2009 |
Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI, Ruiz-Falco ML, Mejaski-Bosnjak V, Augoustides-Savvopoulou P, Wajner M, Walter J, Verhoeven-Duif NM, Struys EA, Jakobs C, van der Knaap MS. L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology. 251: 856-65. PMID 19474378 DOI: 10.1148/radiol.2513080647 |
0.305 |
|
| 2009 |
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 72: 750-9. PMID 19237705 DOI: 10.1212/01.wnl.0000343049.00540.c8 |
0.348 |
|
| 2009 |
Poloni CB, Ferey S, Haenggeli CA, Delavelle J, Bottani A, Salomons GS, Van Der Knaap MS, Korff CM. Alexander disease: early presence of cerebral MRI criteria. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 13: 556-8. PMID 19128991 DOI: 10.1016/j.ejpn.2008.11.008 |
0.339 |
|
| 2009 |
Miles L, DeGrauw TJ, Dinopoulos A, Cecil KM, van der Knaap MS, Bove KE. Megalencephalic leukoencephalopathy with subcortical cysts: a third confirmed case with literature review. Pediatric and Developmental Pathology : the Official Journal of the Society For Pediatric Pathology and the Paediatric Pathology Society. 12: 180-6. PMID 18821826 DOI: 10.2350/08-06-0481.1 |
0.33 |
|
| 2008 |
Zafeiriou DI, Rodenburg RJ, Scheffer H, van den Heuvel LP, Pouwels PJ, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS. MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. Neuropediatrics. 39: 172-5. PMID 18991197 DOI: 10.1055/s-0028-1093336 |
0.339 |
|
| 2008 |
van der Knaap MS, Arts WF, Garbern JY, Hedlund G, Winkler F, Barbosa C, King MD, Bjørnstad A, Hussain N, Beyer MK, Gomez C, Patterson MC, Grattan-Smith P, Timmons M, van der Valk P. Cerebellar leukoencephalopathy: most likely histiocytosis-related. Neurology. 71: 1361-7. PMID 18936429 DOI: 10.1212/01.Wnl.0000327680.74910.93 |
0.345 |
|
| 2008 |
Fontenelle LM, Scheper GC, Brandão L, van der Knaap MS. Atypical presentation of vanishing white matter disease. Arquivos De Neuro-Psiquiatria. 66: 549-51. PMID 18813718 |
0.304 |
|
| 2008 |
Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R. Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects. Human Molecular Genetics. 17: 3728-39. PMID 18757878 DOI: 10.1093/Hmg/Ddn269 |
0.769 |
|
| 2008 |
Uluc K, Baskan O, Yildirim KA, Ozsahin S, Koseoglu M, Isak B, Scheper GC, Gunal DI, van der Knaap MS. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. Journal of the Neurological Sciences. 273: 118-22. PMID 18619624 DOI: 10.1016/j.jns.2008.06.002 |
0.318 |
|
| 2008 |
Wong SS, Luk DC, Wong VC, Scheper GC, van der Knaap MS. Vanishing white matter disease: the first reported chinese patient. Journal of Child Neurology. 23: 710-4. PMID 18539998 DOI: 10.1177/0883073808314154 |
0.316 |
|
| 2008 |
Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands. European Journal of Medical Genetics. 51: 24-34. PMID 18054307 DOI: 10.1016/j.ejmg.2007.10.001 |
0.56 |
|
| 2008 |
Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. Ajnr. American Journal of Neuroradiology. 29: 301-5. PMID 17974614 DOI: 10.3174/ajnr.A0792 |
0.38 |
|
| 2007 |
Boor I, Nagtegaal M, Kamphorst W, van der Valk P, Pronk JC, van Horssen J, Dinopoulos A, Bove KE, Pascual-Castroviejo I, Muntoni F, Estévez R, Scheper GC, van der Knaap MS. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathologica. 114: 403-10. PMID 17628813 DOI: 10.1007/s00401-007-0247-0 |
0.79 |
|
| 2007 |
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. Neurology. 69: 166-71. PMID 17620549 DOI: 10.1212/01.wnl.0000265592.74483.a6 |
0.344 |
|
| 2006 |
Franzoni E, Van der Knaap MS, Errani A, Colonnelli MC, Bracceschi R, Malaspina E, Moscano FC, Garone C, Sarajlija J, Zimmerman RA, Salomons GS, Bernardi B. Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report. Journal of Child Neurology. 21: 1075-80. PMID 17156703 DOI: 10.1177/7010.2006.00235 |
0.302 |
|
| 2006 |
van der Voorn JP, Pouwels PJ, Hart AA, Serrarens J, Willemsen MA, Kremer HP, Barkhof F, van der Knaap MS. Childhood white matter disorders: quantitative MR imaging and spectroscopy. Radiology. 241: 510-7. PMID 17057071 DOI: 10.1148/Radiol.2412051345 |
0.427 |
|
| 2006 |
van Kollenburg B, van Dijk J, Garbern J, Thomas AA, Scheper GC, Powers JM, van der Knaap MS. Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease. Journal of Neuropathology and Experimental Neurology. 65: 707-15. PMID 16825957 DOI: 10.1097/01.jnen.0000228201.27539.50 |
0.339 |
|
| 2006 |
Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases. Folia Neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences. 44: 144-8. PMID 16823698 |
0.381 |
|
| 2006 |
Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS. Vanishing white matter disease: a review with focus on its genetics. Mental Retardation and Developmental Disabilities Research Reviews. 12: 123-8. PMID 16807905 DOI: 10.1002/mrdd.20104 |
0.375 |
|
| 2006 |
van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. The Lancet. Neurology. 5: 413-23. PMID 16632312 DOI: 10.1016/S1474-4422(06)70440-9 |
0.382 |
|
| 2006 |
Kanavin ØJ, Haakonsen M, Server A, Bajwa TJ, van der Knaap MS, Strømme P. Microphthalmia and brain atrophy: a novel neurodegenerative disease. Annals of Neurology. 59: 719-23. PMID 16566018 DOI: 10.1002/ana.20827 |
0.401 |
|
| 2006 |
van der Knaap MS, Kriek M, Overweg-Plandsoen WC, Hansson KB, Madan K, Starreveld JS, Schotman-Schram P, Barkhof F, Lesnik Oberstein SA. Cerebral white matter abnormalities in 6p25 deletion syndrome. Ajnr. American Journal of Neuroradiology. 27: 586-8. PMID 16551997 |
0.302 |
|
| 2006 |
Scheper GC, Proud CG, van der Knaap MS. Defective translation initiation causes vanishing of cerebral white matter. Trends in Molecular Medicine. 12: 159-66. PMID 16545608 DOI: 10.1016/j.molmed.2006.02.006 |
0.356 |
|
| 2006 |
van der Knaap MS, Ramesh V, Schiffmann R, Blaser S, Kyllerman M, Gholkar A, Ellison DW, van der Voorn JP, van Dooren SJ, Jakobs C, Barkhof F, Salomons GS. Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. Neurology. 66: 494-8. PMID 16505300 DOI: 10.1212/01.Wnl.0000198770.80743.37 |
0.431 |
|
| 2006 |
van der Knaap MS, Smit LM, Barkhof F, Pijnenburg YA, Zweegman S, Niessen HW, Imhof S, Heutink P. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Annals of Neurology. 59: 504-11. PMID 16374828 DOI: 10.1002/Ana.20715 |
0.352 |
|
| 2005 |
Yalcinkaya C, Benbir G, Salomons GS, Karaarslan E, Rolland MO, Jakobs C, van der Knaap MS. Atypical MRI findings in Canavan disease: a patient with a mild course. Neuropediatrics. 36: 336-9. PMID 16217711 DOI: 10.1055/s-2005-872878 |
0.34 |
|
| 2005 |
van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. The unfolded protein response in vanishing white matter disease. Journal of Neuropathology and Experimental Neurology. 64: 770-5. PMID 16141786 |
0.303 |
|
| 2005 |
Jurkiewicz E, Mierzewska H, Bekiesińska-Figatowska M, Pakua-Kościesza I, Kmieć T, Scheper G, van der Knaap MS, Pronicka E. MRI of a family with leukoencephalypathy with vanishing white matter. Pediatric Radiology. 35: 1027-30. PMID 15912409 DOI: 10.1007/s00247-005-1498-3 |
0.344 |
|
| 2005 |
Boor PK, de Groot K, Waisfisz Q, Kamphorst W, Oudejans CB, Powers JM, Pronk JC, Scheper GC, van der Knaap MS. MLC1: a novel protein in distal astroglial processes. Journal of Neuropathology and Experimental Neurology. 64: 412-9. PMID 15892299 |
0.339 |
|
| 2005 |
Sie LT, Hart AA, van Hof J, de Groot L, Lems W, Lafeber HN, Valk J, van der Knaap MS. Predictive value of neonatal MRI with respect to late MRI findings and clinical outcome. A study in infants with periventricular densities on neonatal ultrasound. Neuropediatrics. 36: 78-89. PMID 15822020 DOI: 10.1055/s-2005-837574 |
0.508 |
|
| 2005 |
Vermeulen G, Seidl R, Mercimek-Mahmutoglu S, Rotteveel JJ, Scheper GC, van der Knaap MS. Fright is a provoking factor in vanishing white matter disease. Annals of Neurology. 57: 560-3. PMID 15786451 DOI: 10.1002/ana.20418 |
0.304 |
|
| 2005 |
van der Voorn JP, Pouwels PJ, Kamphorst W, Powers JM, Lammens M, Barkhof F, van der Knaap MS. Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. Ajnr. American Journal of Neuroradiology. 26: 442-6. PMID 15760847 |
0.389 |
|
| 2005 |
van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutiérrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, et al. Unusual variants of Alexander's disease. Annals of Neurology. 57: 327-38. PMID 15732098 DOI: 10.1002/Ana.20381 |
0.444 |
|
| 2005 |
Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, Gutiérrez-Solana LG, ... ... van der Knaap MS, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Annals of Neurology. 57: 310-26. PMID 15732097 DOI: 10.1002/Ana.20406 |
0.309 |
|
| 2005 |
Wilson CJ, Pronk JC, Van der Knaap MS. Vanishing white matter disease in a child presenting with ataxia. Journal of Paediatrics and Child Health. 41: 65-7. PMID 15670229 DOI: 10.1111/j.1440-1754.2005.00540.x |
0.416 |
|
| 2004 |
Van Haren K, van der Voorn JP, Peterson DR, van der Knaap MS, Powers JM. The life and death of oligodendrocytes in vanishing white matter disease. Journal of Neuropathology and Experimental Neurology. 63: 618-30. PMID 15217090 DOI: 10.1093/Jnen/63.6.618 |
0.33 |
|
| 2004 |
Serkov SV, Pronin IN, Bykova OV, Maslova OI, Arutyunov NV, Muravina TI, Kornienko VN, Fadeeva LM, Marks H, Bönnemann C, Schiffmann R, van der Knaap MS. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics. 35: 1-5. PMID 15002045 DOI: 10.1055/s-2003-43548 |
0.319 |
|
| 2004 |
Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT. Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival. Neurology. 62: 439-44. PMID 14872027 DOI: 10.1212/01.Wnl.0000106943.40848.03 |
0.531 |
|
| 2004 |
van der Knaap MS, Vermeulen G, Barkhof F, Hart AA, Loeber JG, Weel JF. Pattern of white matter abnormalities at MR imaging: use of polymerase chain reaction testing of Guthrie cards to link pattern with congenital cytomegalovirus infection. Radiology. 230: 529-36. PMID 14752192 DOI: 10.1148/Radiol.2302021459 |
0.406 |
|
| 2004 |
Gallo A, Rocca MA, Falini A, Scaglione C, Salvi F, Gambini A, Guerrini L, Mascalchi M, Pronk JC, van der Knaap MS, Filippi M. Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter. Neurology. 62: 323-6. PMID 14745082 |
0.393 |
|
| 2003 |
Leegwater PA, Pronk JC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: from magnetic resonance imaging pattern to five genes. Journal of Child Neurology. 18: 639-45. PMID 14572143 |
0.325 |
|
| 2003 |
van der Knaap MS, van Berkel CG, Herms J, van Coster R, Baethmann M, Naidu S, Boltshauser E, Willemsen MA, Plecko B, Hoffmann GF, Proud CG, Scheper GC, Pronk JC. eIF2B-related disorders: antenatal onset and involvement of multiple organs. American Journal of Human Genetics. 73: 1199-207. PMID 14566705 DOI: 10.1086/379524 |
0.329 |
|
| 2003 |
Vermeulen RJ, Fetter WP, Hendrikx L, Van Schie PE, van der Knaap MS, Barkhof F. Diffusion-weighted MRI in severe neonatal hypoxic ischaemia: the white cerebrum. Neuropediatrics. 34: 72-6. PMID 12776227 DOI: 10.1055/S-2003-39599 |
0.395 |
|
| 2003 |
van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Annals of Neurology. 53: 252-8. PMID 12557294 DOI: 10.1002/Ana.10456 |
0.409 |
|
| 2002 |
van Wezel-Meijler G, van der Knaap MS, Huisman J, Jonkman EJ, Valk J, Lafeber HN. Dietary supplementation of long-chain polyunsaturated fatty acids in preterm infants: effects on cerebral maturation. Acta Paediatrica (Oslo, Norway : 1992). 91: 942-50. PMID 12412870 DOI: 10.1080/080352502760272632 |
0.449 |
|
| 2002 |
van der Knaap MS, Naidu S, Pouwels PJ, Bonavita S, van Coster R, Lagae L, Sperner J, Surtees R, Schiffmann R, Valk J. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. Ajnr. American Journal of Neuroradiology. 23: 1466-74. PMID 12372733 |
0.481 |
|
| 2002 |
Gorospe JR, Naidu S, Johnson AB, Puri V, Raymond GV, Jenkins SD, Pedersen RC, Lewis D, Knowles P, Fernandez R, De Vivo D, van der Knaap MS, Messing A, Brenner M, Hoffman EP. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology. 58: 1494-500. PMID 12034785 DOI: 10.1212/Wnl.58.10.1494 |
0.322 |
|
| 2002 |
Leegwater PA, Boor PK, Yuan BQ, van der Steen J, Visser A, Könst AA, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. Human Genetics. 110: 279-83. PMID 11935341 DOI: 10.1007/s00439-002-0682-x |
0.302 |
|
| 2001 |
Prass K, Brück W, Schröder NW, Bender A, Prass M, Wolf T, Van der Knaap MS, Zschenderlein R. Adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia. Annals of Neurology. 50: 665-8. PMID 11706974 |
0.327 |
|
| 2001 |
van Wezel-Meijler G, van der Knaap MS. [Diagnostic imaging of brain maturation in premature infants]. Nederlands Tijdschrift Voor Geneeskunde. 145: 410-7. PMID 11253495 |
0.329 |
|
| 2001 |
van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM. Alexander disease: diagnosis with MR imaging. Ajnr. American Journal of Neuroradiology. 22: 541-52. PMID 11237983 |
0.516 |
|
| 2000 |
de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics. 31: 287-92. PMID 11508546 DOI: 10.1055/s-2000-12944 |
0.35 |
|
| 2000 |
Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, Keyser A, Wevers RA, Valk J. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology. 217: 869-76. PMID 11110956 DOI: 10.1148/Radiology.217.3.R00Dc03869 |
0.529 |
|
| 2000 |
Sie LT, Barkhof F, Lafeber HN, Valk J, van der Knaap MS. Value of fluid-attenuated inversion recovery sequences in early MRI of the brain in neonates with a perinatal hypoxic-ischemic encephalopathy. European Radiology. 10: 1594-601. PMID 11044931 DOI: 10.1007/S003300000482 |
0.582 |
|
| 2000 |
Sie LT, van der Knaap MS, Oosting J, de Vries LS, Lafeber HN, Valk J. MR patterns of hypoxic-ischemic brain damage after prenatal, perinatal or postnatal asphyxia. Neuropediatrics. 31: 128-36. PMID 10963099 DOI: 10.1055/s-2000-7496 |
0.507 |
|
| 2000 |
Sie LT, van der Knaap MS, van Wezel-Meijler G, Taets van Amerongen AH, Lafeber HN, Valk J. Early MR features of hypoxic-ischemic brain injury in neonates with periventricular densities on sonograms. Ajnr. American Journal of Neuroradiology. 21: 852-61. PMID 10815660 |
0.505 |
|
| 2000 |
van der Knaap MS, Naidu S, Kleinschmidt-Demasters BK, Kamphorst W, Weinstein HC. Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology. 54: 463-8. PMID 10668715 DOI: 10.1212/Wnl.54.2.463 |
0.361 |
|
| 1999 |
van Wezel-Meijler G, van der Knaap MS, Oosting J, Sie LT, de Groot L, Huisman J, Valk J, Lafeber HN. Predictive value of neonatal MRI as compared to ultrasound in premature infants with mild periventricular white matter changes. Neuropediatrics. 30: 231-8. PMID 10598833 DOI: 10.1055/s-2007-973496 |
0.516 |
|
| 1999 |
van der Knaap MS, Wevers RA, Kure S, Gabreëls FJ, Verhoeven NM, van Raaij-Selten B, Jaeken J. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. Journal of Child Neurology. 14: 728-31. PMID 10593550 DOI: 10.1177/088307389901401108 |
0.302 |
|
| 1999 |
van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C. Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Annals of Neurology. 46: 925-8. PMID 10589548 DOI: 10.1002/1531-8249(199912)46:6<925::Aid-Ana18>3.0.Co;2-J |
0.522 |
|
| 1999 |
van der Knaap MS, Breiter SN, Naidu S, Hart AA, Valk J. Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach. Radiology. 213: 121-33. PMID 10540652 DOI: 10.1148/radiology.213.1.r99se01121 |
0.478 |
|
| 1998 |
van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology. 51: 540-7. PMID 9710032 |
0.534 |
|
| 1998 |
van der Knaap MS, Bakker HD, Valk J. MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Ajnr. American Journal of Neuroradiology. 19: 378-82. PMID 9504498 |
0.554 |
|
| 1997 |
Hanlo PW, Gooskens RJ, van Schooneveld M, Tulleken CA, van der Knaap MS, Faber JA, Willemse J. The effect of intracranial pressure on myelination and the relationship with neurodevelopment in infantile hydrocephalus. Developmental Medicine and Child Neurology. 39: 286-91. PMID 9236693 DOI: 10.1111/J.1469-8749.1997.Tb07433.X |
0.566 |
|
| 1997 |
van der Knaap MS, Smit LM, Barth PG, Catsman-Berrevoets CE, Brouwer OF, Begeer JH, de Coo IF, Valk J. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Annals of Neurology. 42: 50-9. PMID 9225685 DOI: 10.1002/ana.410420110 |
0.592 |
|
| 1997 |
Sie LT, van der Knaap MS, van Wezel-Meijler G, Valk J. MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants. Neuropediatrics. 28: 97-105. PMID 9208409 DOI: 10.1055/s-2007-973680 |
0.545 |
|
| 1997 |
van der Knaap MS, Barth PG, Gabreëls FJ, Franzoni E, Begeer JH, Stroink H, Rotteveel JJ, Valk J. A new leukoencephalopathy with vanishing white matter. Neurology. 48: 845-55. PMID 9109866 |
0.603 |
|
| 1996 |
van der Knaap MS, Jakobs C, Valk J. Magnetic resonance imaging in lactic acidosis. Journal of Inherited Metabolic Disease. 19: 535-47. PMID 8884577 |
0.551 |
|
| 1996 |
Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, Poll-The BT. Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatric Research. 40: 404-9. PMID 8865276 DOI: 10.1203/00006450-199609000-00007 |
0.552 |
|
| 1996 |
van der Knaap MS, Barth PG, Vrensen GF, Valk J. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathologica. 92: 206-12. PMID 8841668 |
0.568 |
|
| 1996 |
van der Knaap MS, van Wezel-Meijler G, Barth PG, Barkhof F, Adèr HJ, Valk J. Normal gyration and sulcation in preterm and term neonates: appearance on MR images. Radiology. 200: 389-96. PMID 8685331 DOI: 10.1148/Radiology.200.2.8685331 |
0.527 |
|
| 1995 |
van der Knaap MS, Valk J, Barth PG, Smit LM, van Engelen BG, Tortori Donati P. Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis. Neuroradiology. 37: 679-86. PMID 8748906 |
0.574 |
|
| 1995 |
Rademakers RP, van der Knaap MS, Verbeeten B, Barth PG, Valk J. Central cortico-subcortical involvement: a distinct pattern of brain damage caused by perinatal and postnatal asphyxia in term infants. Journal of Computer Assisted Tomography. 19: 256-63. PMID 7890852 |
0.495 |
|
| 1995 |
van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts WF, Hoogenraad F, Valk J. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children. Annals of Neurology. 37: 324-34. PMID 7695231 DOI: 10.1002/ana.410370308 |
0.723 |
|
| 1995 |
van den Berg M, van der Knaap MS, Boers GH, Stehouwer CD, Rauwerda JA, Valk J. Hyperhomocysteinaemia; with reference to its neuroradiological aspects. Neuroradiology. 37: 403-11. PMID 7477843 |
0.468 |
|
| 1993 |
van der Knaap MS, Smit LS, Nauta JJ, Lafeber HN, Valk J. Cortical laminar abnormalities--occurrence and clinical significance. Neuropediatrics. 24: 143-8. PMID 8355819 DOI: 10.1055/s-2008-1071532 |
0.534 |
|
| 1993 |
van der Knaap MS, Valk J, Jansen GH, Kappelle LJ, van Nieuwenhuizen O. Mycotic encephalitis: predilection for grey matter. Neuroradiology. 35: 567-72. PMID 8278032 DOI: 10.1007/BF00588394 |
0.665 |
|
| 1992 |
Edzes HT, Teerlink T, van der Knaap MS, Valk J. Analysis of phospholipids in brain tissue by 31P NMR at different compositions of the solvent system chloroform-methanol-water. Magnetic Resonance in Medicine. 26: 46-59. PMID 1625566 DOI: 10.1002/mrm.1910260106 |
0.475 |
|
| 1992 |
van der Knaap MS, van der Grond J, Luyten PR, den Hollander JA, Nauta JJ, Valk J. 1H and 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders. Annals of Neurology. 31: 202-11. PMID 1575459 DOI: 10.1002/ana.410310211 |
0.545 |
|
| 1992 |
van der Knaap MS, Bakker CJ, Faber JA, Valk J, Mali WP, Willemse J, Gooskens RH. Comparison of skull circumference and linear measurements with CSF volume MR measurements in hydrocephalus. Journal of Computer Assisted Tomography. 16: 737-43. PMID 1522266 DOI: 10.1097/00004728-199209000-00013 |
0.631 |
|
| 1992 |
Valk J, van der Knaap MS. Toxic encephalopathy. Ajnr. American Journal of Neuroradiology. 13: 747-60. PMID 1348902 |
0.387 |
|
| 1991 |
Valk J, van der Knaap MS. White matter disorders. Current Opinion in Neurology and Neurosurgery. 4: 843-51. PMID 10146206 |
0.543 |
|
| 1991 |
van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology. 33: 30-7. PMID 2027442 DOI: 10.1007/BF00593330 |
0.536 |
|
| 1991 |
de Rijk-van Andel JF, van der Knaap MS, Valk J, Arts WF. Neuroimaging in lissencephaly type I. Neuroradiology. 33: 230-3. PMID 1881540 DOI: 10.1007/BF00588223 |
0.471 |
|
| 1991 |
van der Knaap MS, Valk J, de Neeling N, Nauta JJ. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology. 33: 478-93. PMID 1780048 |
0.526 |
|
| 1991 |
van der Knaap MS, Valk J, Bakker CJ, Schooneveld M, Faber JA, Willemse J, Gooskens RH. Myelination as an expression of the functional maturity of the brain. Developmental Medicine and Child Neurology. 33: 849-57. PMID 1743407 |
0.692 |
|
| 1990 |
van der Knaap MS, Valk J. MR imaging of the various stages of normal myelination during the first year of life. Neuroradiology. 31: 459-70. PMID 2352626 DOI: 10.1007/BF00340123 |
0.568 |
|
| 1990 |
van der Knaap MS, van der Grond J, van Rijen PC, Faber JA, Valk J, Willemse K. Age-dependent changes in localized proton and phosphorus MR spectroscopy of the brain. Radiology. 176: 509-15. PMID 2164237 DOI: 10.1148/radiology.176.2.2164237 |
0.481 |
|
| 1989 |
van der Knaap MS, Valk J. [Nuclear resonance tomography of the central nervous system; a good use of the possibilities]. Nederlands Tijdschrift Voor Geneeskunde. 133: 2433-8. PMID 2687705 |
0.451 |
|
| 1989 |
van der Knaap MS, Valk J. MR of adrenoleukodystrophy: histopathologic correlations. Ajnr. American Journal of Neuroradiology. 10: S12-4. PMID 2505549 |
0.434 |
|
| 1989 |
van der Knaap MS, Valk J. The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease. Ajnr. American Journal of Neuroradiology. 10: 99-103. PMID 2492735 |
0.586 |
|
| 1988 |
van der Knaap MS, Valk J. Classification of congenital abnormalities of the CNS. Ajnr. American Journal of Neuroradiology. 9: 315-26. PMID 3128080 |
0.54 |
|
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