Marjo S. van der Knaap, MD PhD - Publications

Affiliations: 
Child Neurology VU University Medical Center, Amsterdam, Netherlands 
Area:
White matter disorders
Website:
http://knaw.nl/nl/leden/leden/7231

299 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 van der Knaap MS, Schiffmann R, Mochel F, Wolf NI. Diagnosis, prognosis, and treatment of leukodystrophies. The Lancet. Neurology. PMID 31307818 DOI: 10.1016/S1474-4422(19)30143-7  0.56
2019 Joyal KM, Michaud J, van der Knaap MS, Bugiani M, Venkateswaran S. Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings. Journal of Neuropathology and Experimental Neurology. 78: 3-9. PMID 30476126 DOI: 10.1093/jnen/nly105  0.4
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  0.56
2017 Cayami FK, Bugiani M, Pouwels PJW, Bernard G, van der Knaap MS, Wolf NI. 4H Leukodystrophy: Lessons from 3T Imaging. Neuropediatrics. PMID 29179231 DOI: 10.1055/s-0037-1608780  0.56
2017 Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, ... ... van der Knaap MS, et al. UFM1 founder mutation in the Roma population causes recessive variant of H-ABC. Neurology. PMID 28931644 DOI: 10.1212/WNL.0000000000004578  0.56
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  0.4
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  0.72
2017 van der Knaap MS, Bugiani M, Kevelam SH. Author response: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Neurology. 88: 1776. PMID 28461579 DOI: 10.1212/WNL.0000000000003899  0.4
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  0.72
2016 van Rappard DF, Boelens JJ, van Egmond ME, Kuball J, van Hasselt PM, Oostrom KJ, Pouwels PJ, van der Knaap MS, Hollak CE, Wolf NI. Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. Blood. PMID 27118454 DOI: 10.1182/blood-2016-03-708479  0.72
2016 La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, ... ... van der Knaap MS, et al. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. PMID 27029625 DOI: 10.1212/WNL.0000000000002612  1
2016 Stellitano LA, Winstone AM, van der Knaap MS, Verity CM. Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study. Developmental Medicine and Child Neurology. PMID 26866636 DOI: 10.1111/dmcn.13027  1
2015 Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K, Taft RJ, Vanderver A, van der Knaap MS. MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy. Annals of Neurology. PMID 26642834 DOI: 10.1002/ana.24572  1
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  1
2015 van de Pol LA, Wolf NI, van Weissenbruch MM, Stam CJ, Weiss JM, Waisfisz Q, Kevelam SH, Bugiani M, van de Kamp JM, van der Knaap MS. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. Neuropediatrics. PMID 26535877 DOI: 10.1055/s-0035-1564791  1
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  0.72
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  0.4
2015 Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TE, Waisfisz Q, van der Knaap MS. Recessive ITPA mutations cause an early infantile encephalopathy. Annals of Neurology. PMID 26224535 DOI: 10.1002/ana.24496  0.32
2015 Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, ... ... van der Knaap MS, et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Communications. 6: 7623. PMID 26151409 DOI: 10.1038/ncomms8623  1
2015 Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, ... ... van der Knaap MS, et al. Altered PLP1 splicing causes hypomyelination of early myelinating structures. Annals of Clinical and Translational Neurology. 2: 648-61. PMID 26125040 DOI: 10.1002/acn3.203  0.56
2015 Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno GÁ, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet Journal of Rare Diseases. 10: 69. PMID 26045207 DOI: 10.1186/s13023-015-0279-9  1
2015 Cayami FK, La Piana R, van Spaendonk RM, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G, Wolf NI. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. Neuropediatrics. 46: 221-8. PMID 26011300 DOI: 10.1055/s-0035-1550148  1
2015 van der Pol RJ, Benninga MA, Magré J, Van Maldergem L, Rotteveel J, van der Knaap MS, de Meij TG. Berardinelli-Seip syndrome and achalasia: a shared pathomechanism? European Journal of Pediatrics. 174: 975-80. PMID 25994244 DOI: 10.1007/s00431-015-2556-y  1
2015 Upton KR, Gerhardt DJ, Jesuadian JS, Richardson SR, Sánchez-Luque FJ, Bodea GO, Ewing AD, Salvador-Palomeque C, van der Knaap MS, Brennan PM, Vanderver A, Faulkner GJ. Ubiquitous L1 mosaicism in hippocampal neurons. Cell. 161: 228-39. PMID 25860606 DOI: 10.1016/j.cell.2015.03.026  1
2015 Hanagasi HA, Bilgiç B, Abbink TE, Hanagasi F, Tüfekçioğlu Z, Gürvit H, Başak N, van der Knaap MS, Emre M. Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation. Parkinsonism & Related Disorders. 21: 544-6. PMID 25745790 DOI: 10.1016/j.parkreldis.2015.02.013  1
2015 Meuwissen ME, Halley DJ, Smit LS, Lequin MH, Cobben JM, de Coo R, van Harssel J, Sallevelt S, Woldringh G, van der Knaap MS, de Vries LS, Mancini GM. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25719457 DOI: 10.1038/gim.2014.210  1
2015 Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, et al. Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. 114: 527-36. PMID 25684057 DOI: 10.1016/j.ymgme.2015.01.014  1
2015 Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Molecular Genetics and Metabolism. 114: 501-15. PMID 25655951 DOI: 10.1016/j.ymgme.2014.12.434  1
2015 Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, ... ... van der Knaap MS, et al. Case definition and classification of leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. 114: 494-500. PMID 25649058 DOI: 10.1016/j.ymgme.2015.01.006  1
2015 Hamilton EM, Wolf NI, van der Knaap MS. Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited. Brain : a Journal of Neurology. 138: e371. PMID 25619510 DOI: 10.1093/brain/awu404  1
2015 Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, Piana RL, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. Journal of Child Neurology. 30: 1343-8. PMID 25535058 DOI: 10.1177/0883073814562252  1
2015 Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology. 84: 226-30. PMID 25527264 DOI: 10.1212/WNL.0000000000001157  1
2015 Kariminejad A, Rajaee A, Ashrafi MR, Alizadeh H, Tonekaboni SH, Malamiri RA, Ghofrani M, Karimzadeh P, Mohammadi MM, Baghalshooshtari A, Bozorgmehr B, Kariminejad MH, Postma N, Abbink TE, van der Knaap MS. Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts. European Journal of Medical Genetics. 58: 71-4. PMID 25497041 DOI: 10.1016/j.ejmg.2014.12.004  1
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  1
2015 Hamilton EM, Wolf NI, van der Knaap MS. Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum. Brain : a Journal of Neurology. 138: e328. PMID 25168211 DOI: 10.1093/brain/awu243  1
2015 Kevelam SH, Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss MM, Salomons GS, Abbink TEM, Waisfisz Q, van der Knaap MS. Recessive ITPA mutations cause an early infantile encephalopathy Annals of Neurology. DOI: 10.1002/ana.24496  1
2014 Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, ... ... van der Knaap MS, et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 83: 1898-905. PMID 25339210 DOI: 10.1212/WNL.0000000000001002  1
2014 Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, ... van der Knaap MS, et al. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 83: 898-902. PMID 25085639 DOI: 10.1212/WNL.0000000000000754  1
2014 Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran LT, Shoubridge E, van der Knaap MS, Braverman N, Bernard G. A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. Neurogenetics. 15: 161-4. PMID 24952175 DOI: 10.1007/s10048-014-0412-2  1
2014 Levin J, Tiedt S, Arzberger T, Biskup S, Schuberth M, Stenglein-Krapf G, Kreth FW, Högen T, la Fougère C, Linn J, van der Knaap MS, Giese A, Kretzschmar HA, Danek A. Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation. Clinical Neurology and Neurosurgery. 122: 113-5. PMID 24908228 DOI: 10.1016/j.clineuro.2014.04.022  1
2014 van der Knaap MS, Kevelam SH. Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. Brain : a Journal of Neurology. 137: e297. PMID 24878500 DOI: 10.1093/brain/awu130  1
2014 van der Knaap MS, Hamilton EM, van Berge L. Reply: DARS2 gene clinical spectrum: new ideas regarding an underdiagnosed leukoencephalopathy. Brain : a Journal of Neurology. 137: e290. PMID 24860141 DOI: 10.1093/brain/awu135  1
2014 Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, ... ... van der Knaap MS, et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 82: 2063-71. PMID 24808023 DOI: 10.1212/WNL.0000000000000497  1
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  1
2014 Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q. Mutations in RARS cause hypomyelination. Annals of Neurology. 76: 134-9. PMID 24777941 DOI: 10.1002/ana.24167  1
2014 Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R. Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. Journal of Inherited Metabolic Disease. 37: 775-81. PMID 24687295 DOI: 10.1007/s10545-014-9702-y  1
2014 Blumkin L, Halevy A, Ben-Ami-Raichman D, Dahari D, Haviv A, Sarit C, Lev D, van der Knaap MS, Lerman-Sagie T, Leshinsky-Silver E. Reply to: The many faces of TUBB4A mutations. Neurogenetics. 15: 83. PMID 24659298 DOI: 10.1007/s10048-014-0400-6  1
2014 van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, ... ... van der Knaap MS, et al. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy. Brain : a Journal of Neurology. 137: 1019-29. PMID 24566671 DOI: 10.1093/brain/awu026  1
2014 Blumkin L, Halevy A, Ben-Ami-Raichman D, Dahari D, Haviv A, Sarit C, Lev D, van der Knaap MS, Lerman-Sagie T, Leshinsky-Silver E. Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics. 15: 107-13. PMID 24526230 DOI: 10.1007/s10048-014-0392-2  1
2014 Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, ... ... van der Knaap MS, et al. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics. 45: 175-82. PMID 24407470 DOI: 10.1055/s-0033-1364180  1
2014 Tacke ZC, Eikelenboom MJ, Vermeulen RJ, van der Knaap MS, Euser AM, van der Valk P, Kaspers GJ. Childhood lymphomatoid granulomatosis: a report of 2 cases and review of the literature. Journal of Pediatric Hematology/Oncology. 36: e416-22. PMID 24390446 DOI: 10.1097/MPH.0000000000000090  1
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  1
2014 Kevelam SH, van Engelen BG, van Berkel CG, Küsters B, van der Knaap MS. LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy. Muscle & Nerve. 49: 616-7. PMID 24327385 DOI: 10.1002/mus.24147  1
2013 Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS. Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing. Journal of Medical Genetics. 50: 754-9. PMID 24049096 DOI: 10.1136/jmedgenet-2013-101961  1
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  1
2013 van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, ... ... van der Knaap MS, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of Medical Genetics. 50: 463-72. PMID 23644449 DOI: 10.1136/jmedgenet-2013-101658  1
2013 Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, ... ... van der Knaap MS, et al. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. American Journal of Human Genetics. 92: 774-80. PMID 23643384 DOI: 10.1016/j.ajhg.2013.04.006  1
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  1
2013 Schicks J, Schöls L, van der Knaap MS, Synofzik M. Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL). Neurology. 80: e176-7. PMID 23589646 DOI: 10.1212/WNL.0b013e31828cf846  1
2013 Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, ... ... van der Knaap MS, et al. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. American Journal of Human Genetics. 92: 767-73. PMID 23582646 DOI: 10.1016/j.ajhg.2013.03.018  1
2013 Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P. A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. Mitochondrion. 13: 749-54. PMID 23562761 DOI: 10.1016/j.mito.2013.03.010  1
2013 Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, ... ... van der Knaap MS, et al. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. American Journal of Human Genetics. 92: 627-31. PMID 23561848 DOI: 10.1016/j.ajhg.2013.03.009  1
2013 Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. Neurology. 80: 1577-83. PMID 23553477 DOI: 10.1212/WNL.0b013e31828f1914  1
2013 Kocaman G, Eryigit G, Abbink TE, Kılıcarslan R, Asil T, Alkan A, Van der Knaap MS, Kocer A. An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts. Clinical Neurology and Neurosurgery. 115: 1564-6. PMID 23485252 DOI: 10.1016/j.clineuro.2013.01.024  1
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  1
2013 de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP. Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients. European Journal of Human Genetics : Ejhg. 21: 1312-5. PMID 23443022 DOI: 10.1038/ejhg.2013.27  1
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  1
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  1
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  0.56
2013 van Berge L, Kevenaar J, Polder E, Gaudry A, Florentz C, Sissler M, van der Knaap MS, Scheper GC. Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways. The Biochemical Journal. 450: 345-50. PMID 23216004 DOI: 10.1042/BJ20121564  1
2013 Livingston JH, Stivaros S, van der Knaap MS, Crow YJ. Recognizable phenotypes associated with intracranial calcification. Developmental Medicine and Child Neurology. 55: 46-57. PMID 23121296 DOI: 10.1111/j.1469-8749.2012.04437.x  1
2013 Ramesh K, Sharma S, Kumar A, Salomons GS, van der Knaap MS, Gulati S. Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. Journal of Child Neurology. 28: 396-8. PMID 22566711 DOI: 10.1177/0883073812444313  1
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  1
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  1
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  1
2012 Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, et al. Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. Journal of Inherited Metabolic Disease. 35: 737-47. PMID 22644603 DOI: 10.1007/s10545-012-9492-z  1
2012 Valálik I, van der Knaap MS, Scheper GC, Jobbágy A, Liptai Z, Csókay A. Long-term tremor control with bilateral Vim-DBS in vanishing white matter disease. Parkinsonism & Related Disorders. 18: 1048-50. PMID 22632853 DOI: 10.1016/j.parkreldis.2012.05.001  1
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  1
2012 de Souza Rezende SA, Fernandes M, Munhoz RP, Raskin S, Schelp AO, van der Knaap MS, Teive HAG. Cerebellar ataxia as the first manifestation of Alexander's disease | Ataxia cerebelar como manifestação inicial da doença de Alexander Arquivos De Neuro-Psiquiatria. 70: 309-310. PMID 22510744 DOI: 10.1590/S0004-282X2012000400018  1
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  1
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  1
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  1
2012 Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2-hydroxyglutaric acidurias. Journal of Inherited Metabolic Disease. 35: 571-87. PMID 22391998 DOI: 10.1007/s10545-012-9462-5  1
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  1
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  1
2012 Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, ... ... van der Knaap MS, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature Genetics. 44: 338-42. PMID 22267198 DOI: 10.1038/ng.1084  1
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  1
2012 Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Human Mutation. 33: 561-71. PMID 22213089 DOI: 10.1002/humu.22016  1
2012 Damásio J, van der Lei HD, van der Knaap MS, Santos E. Late onset vanishing white matter disease presenting with learning difficulties. Journal of the Neurological Sciences. 314: 169-70. PMID 22063081 DOI: 10.1016/j.jns.2011.10.021  1
2012 van Berge L, Dooves S, van Berkel CG, Polder E, van der Knaap MS, Scheper GC. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA. The Biochemical Journal. 441: 955-62. PMID 22023289 DOI: 10.1042/BJ20110795  1
2012 Messing A, Li R, Naidu S, Taylor JP, Silverman L, Flint D, van der Knaap MS, Brenner M. Archetypal and new families with Alexander disease and novel mutations in GFAP. Archives of Neurology. 69: 208-14. PMID 21987397 DOI: 10.1001/archneurol.2011.1181  1
2012 Dos Santos MM, Grond-Ginsbach C, Aksay SS, Chen B, Tchatchou S, Wolf NI, van der Knaap MS, Grau AJ. Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. Journal of Neurology. 259: 579-81. PMID 21909802 DOI: 10.1007/s00415-011-6225-4  1
2012 van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect. Journal of Inherited Metabolic Disease. 35: 141-9. PMID 21556832 DOI: 10.1007/s10545-011-9345-1  1
2012 De Beer F, Van Harten A, Lemstra E, Van Der Knaap MS. 'Vanishing white matter' in adults | Vanishing white matter' bij volwassenen Nederlands Tijdschrift Voor Geneeskunde. 156.  1
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  1
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  1
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  1
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  1
2011 Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease. Molecular Genetics and Metabolism. 104: 637-43. PMID 21959080 DOI: 10.1016/j.ymgme.2011.08.032  1
2011 Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, et al. Hypomyelination and congenital cataract: broadening the clinical phenotype. Archives of Neurology. 68: 1191-4. PMID 21911699 DOI: 10.1001/archneurol.2011.201  1
2011 van Berge L, van Berkel CG, Scheper GC, van der Knaap MS. Correspondence on "Spinal cord calcification in an early-onset progressive leukoencephalopathy". Journal of Child Neurology. 26: 1057; author reply 1. PMID 21775620 DOI: 10.1177/0883073811412072  1
2011 López-Hernández T, Sirisi S, Capdevila-Nortes X, Montolio M, Fernández-Dueñas V, Scheper GC, van der Knaap MS, Casquero P, Ciruela F, Ferrer I, Nunes V, Estévez R. Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts. Human Molecular Genetics. 20: 3266-77. PMID 21624973 DOI: 10.1093/hmg/ddr238  1
2011 van der Knaap MS, Scheper GC. Not all cystic leukoencephalopathies are "vanishing white matter". Molecular Genetics and Metabolism. 103: 413; author reply 41. PMID 21601503 DOI: 10.1016/j.ymgme.2011.04.011  1
2011 Liu R, van der Lei HD, Wang X, Wortham NC, Tang H, van Berkel CG, Mufunde TA, Huang W, van der Knaap MS, Scheper GC, Proud CG. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. Human Mutation. 32: 1036-45. PMID 21560189 DOI: 10.1002/humu.21535  1
2011 Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI. N-acetylaspartylglutamate in CNS hypomyelination. Neuropediatrics. 42: 74-7. PMID 21544765 DOI: 10.1055/s-0031-1277176  1
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  1
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  1
2011 Narumi Y, Shiihara T, Yoshihashi H, Sakazume S, van der Knaap MS, Nishimura-Tadaki A, Matsumoto N, Fukushima Y. Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome. Clinical Dysmorphology. 20: 166-7. PMID 21471810 DOI: 10.1097/MCD.0b013e32834659a8  1
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  1
2011 López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS. Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. American Journal of Human Genetics. 88: 422-32. PMID 21419380 DOI: 10.1016/j.ajhg.2011.02.009  1
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  1
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  1
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  1
2011 Messmer M, Florentz C, Schwenzer H, Scheper GC, van der Knaap MS, Maréchal-Drouard L, Sissler M. A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria. The Biochemical Journal. 433: 441-6. PMID 21121901 DOI: 10.1042/BJ20101902  1
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  1
2011 Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain : a Journal of Neurology. 134: 143-56. PMID 20952379 DOI: 10.1093/brain/awq287  0.64
2011 van de Kamp JM, Mancini GM, Pouwels PJ, Betsalel OT, van Dooren SJ, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS. Clinical features and X-inactivation in females heterozygous for creatine transporter defect. Clinical Genetics. 79: 264-72. PMID 20528887 DOI: 10.1111/j.1399-0004.2010.01460.x  1
2010 van der Lei HD, van Berkel CG, van Wieringen WN, Brenner C, Feigenbaum A, Mercimek-Mahmutoglu S, Philippart M, Tatli B, Wassmer E, Scheper GC, van der Knaap MS. Genotype-phenotype correlation in vanishing white matter disease. Neurology. 75: 1555-9. PMID 20975056 DOI: 10.1212/WNL.0b013e3181f962ae  1
2010 Jefferson RJ, Absoud M, Jain R, Livingston JH, VAN DER Knaap MS, Jayawant S. Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. Developmental Medicine and Child Neurology. 52: 1160-3. PMID 20964669 DOI: 10.1111/j.1469-8749.2010.03784.x  1
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  1
2010 Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, et al. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (New York, N.Y.). 330: 336. PMID 20847235 DOI: 10.1126/science.1192632  1
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  1
2010 Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM, Shoubridge EA. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. American Journal of Human Genetics. 87: 115-22. PMID 20598281 DOI: 10.1016/j.ajhg.2010.06.004  1
2010 Kroes HY, Van Zanten BG, De Ru SA, Boon M, Mancini GM, Van der Knaap MS, Poll-The BT, Lindhout D. Is hearing loss a feature of Joubert syndrome, a ciliopathy? International Journal of Pediatric Otorhinolaryngology. 74: 1034-8. PMID 20591505 DOI: 10.1016/j.ijporl.2010.05.034  1
2010 van der Knaap MS, Wolf NI. Hypomyelination versus delayed myelination. Annals of Neurology. 68: 115. PMID 20582949 DOI: 10.1002/ana.21751  1
2010 YiÅŸ U, Scheper GC, Uran N, Unalp A, Cakmakçi H, Hiz-Kurul S, Dirik E, van der Knaap MS. Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population. The Turkish Journal of Pediatrics. 52: 179-83. PMID 20560255  1
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  1
2010 Lin J, Chiconelli Faria E, Da Rocha AJ, Rodrigues Masruha M, Pereira Vilanova LC, Scheper GC, Van der Knaap MS. Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. Journal of Child Neurology. 25: 1425-8. PMID 20501884 DOI: 10.1177/0883073810370897  1
2010 Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, et al. Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain : a Journal of Neurology. 133: 1810-22. PMID 20430833 DOI: 10.1093/brain/awq087  1
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  1
2010 Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, ... ... van der Knaap MS, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Human Mutation. 31: 380-90. PMID 20052767 DOI: 10.1002/humu.21197  1
2010 Ertürk Ö, Yalçinkaya C, Siva A, Van Der Knaap MS. Adult-onset leukoencephalopathy with brain stem and spinal cord involvement and normal lactate: Case report Turk Noroloji Dergisi. 16: 106-109.  1
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  1
2009 Wolf NI, van der Knaap MS. AGC1 deficiency and cerebral hypomyelination. The New England Journal of Medicine. 361: 1997-8; author reply. PMID 19907050 DOI: 10.1056/NEJMc091723  1
2009 Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA. 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. Journal of Inherited Metabolic Disease. 32: 713-9. PMID 19821142 DOI: 10.1007/s10545-009-1282-x  1
2009 Gascon-Bayarri J, Campdelacreu J, Sánchez-Castañeda C, Martínez-Yélamos S, Moragas M, Scheper GC, Van der Knaap MS, Reñé R. Leukoencephalopathy with vanishing white matter presenting with presenile dementia. Journal of Neurology, Neurosurgery, and Psychiatry. 80: 810-1. PMID 19531691 DOI: 10.1136/jnnp.2008.156091  1
2009 Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, ... ... van der Knaap MS, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nature Genetics. 41: 829-32. PMID 19525956 DOI: 10.1038/ng.373  1
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  1
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  1
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  1
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  1
2009 Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, ... ... van der Knaap MS, et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. American Journal of Human Genetics. 84: 44-51. PMID 19118815 DOI: 10.1016/j.ajhg.2008.12.009  1
2009 Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, ... ... van der Knaap MS, et al. Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human Mutation. 30: E500-19. PMID 19105190 DOI: 10.1002/humu.20945  1
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  1
2009 Visser WE, Jansen J, Friesema EC, Kester MH, Mancilla E, Lundgren J, van der Knaap MS, Lunsing RJ, Brouwer OF, Visser TJ. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. Human Mutation. 30: 29-38. PMID 18636565 DOI: 10.1002/humu.20808  1
2009 Van Der Knaap MS. Reply from the authors Neurology. 73: 488-489. DOI: 10.1212/WNL.0b013e3181ab969a  1
2009 Van Der Voom JP, Pouwels PJ, Vermeulen RJ, Barkhof F, Van Der Knaap MS. Quantitative MR imaging and spectroscopy in congenital cytomegalovirus infection and periventricular leukomalacia suggests a comparable neuropathological substrate of the cerebral white matter lesions (Neuropediatrics (2009) 40 (168173) DOI: 10.1055/s-0029-1243228) Neuropediatrics. 40: 173. DOI: 10.1055/s-0030-1249760  1
2009 Van Der Knaap MS. MR definition of novel white matter disorders Neuroradiology Journal. 22: 69-70.  1
2009 Mejaški-Bošnjak V, Daković I, Scheper GC, Van Der Knaap MS, Grmoja T, Gojmerac T. Vanishing white matter disease | Vanishing white matter disease Paediatria Croatica. 53: 149-152.  1
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  1
2008 Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, et al. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical Genetics. 74: 425-33. PMID 18954413 DOI: 10.1111/j.1399-0004.2008.01093.x  1
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  1
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  1
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  1
2008 Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics. 40: 1113-8. PMID 18711368 DOI: 10.1038/ng.204  1
2008 Mathis S, Scheper GC, Baumann N, Petit E, Gil R, van der Knaap MS, Neau JP. The ovarioleukodystrophy. Clinical Neurology and Neurosurgery. 110: 1035-7. PMID 18678442 DOI: 10.1016/j.clineuro.2008.06.002  1
2008 Grunt S, van der Knaap MS, van Ouwerkerk WJ, Strijers RL, Becher JG, Vermeulen RJ. Effectiveness of selective dorsal rhizotomy in 2 patients with progressive spasticity due to neurodegenerative disease. Journal of Child Neurology. 23: 818-22. PMID 18658081 DOI: 10.1177/0883073808316372  1
2008 Ledebt A, Savelsbergh GJ, Sie LT, van der Knaap MS. Walking and periventricular leukomalacia: locomotor characteristics and brain imaging (MRI). Infant Behavior & Development. 31: 655-64. PMID 18657866 DOI: 10.1016/j.infbeh.2008.05.001  1
2008 Pronk J, Scheper G, van Andel R, van Berkel C, Polman Ch, Uitdehaag B, van der Knaap M. No evidence that polymorphisms of the vanishing white matter disease genes are risk factors in multiple sclerosis. Multiple Sclerosis (Houndmills, Basingstoke, England). 14: 1123-6. PMID 18632786 DOI: 10.1177/1352458508093618  1
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  1
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  1
2008 Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, et al. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Human Mutation. 29: 809-22. PMID 18366090 DOI: 10.1002/humu.20704  1
2008 Betsalel OT, van de Kamp JM, Martínez-Muñoz C, Rosenberg EH, de Brouwer AP, Pouwels PJ, van der Knaap MS, Mancini GM, Jakobs C, Hamel BC, Salomons GS. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency. Neurogenetics. 9: 183-90. PMID 18350323 DOI: 10.1007/s10048-008-0125-5  1
2008 Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, et al. Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. Annals of Neurology. 63: 473-81. PMID 18306232 DOI: 10.1002/ana.21328  1
2008 Jiménez-Huete A, Bernar J, Miyajima H, Takahashi Y, Alvarez-Linera J, Franch O, van der Knaap MS. Multiple motor system dysfunction associated with a heterozygous ceruloplasmin gene mutation. Journal of Neurology. 255: 1083-4. PMID 18293024 DOI: 10.1007/s00415-008-0823-9  1
2008 Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, ... ... van der Knaap MS, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). American Journal of Medical Genetics. Part A. 146: 182-90. PMID 18076099 DOI: 10.1002/ajmg.a.32080  1
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  1
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  1
2007 van Heteren JT, van der Knaap MS, Poll The BW, Kuijpers TW. Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome. Neuropediatrics. 38: 269-75. PMID 18461501 DOI: 10.1055/s-2008-1065352  1
2007 van der Knaap MS, Schiffmann R, Scheper GC. Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter. Neuropediatrics. 38: 264. PMID 18330844 DOI: 10.1055/s-2008-1046788  1
2007 Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, ... ... van der Knaap MS, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics. 81: 713-25. PMID 17846997 DOI: 10.1086/521373  1
2007 Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, ... ... van der Knaap MS, et al. Phenotypic characterization of hypomyelination and congenital cataract. Annals of Neurology. 62: 121-7. PMID 17683097 DOI: 10.1002/ana.21175  1
2007 Scheper GC, van der Knaap MS, Proud CG. Translation matters: protein synthesis defects in inherited disease. Nature Reviews. Genetics. 8: 711-23. PMID 17680008 DOI: 10.1038/nrg2142  1
2007 Klepper J, Engelbrecht V, Scheffer H, van der Knaap MS, Fiedler A. GLUT1 deficiency with delayed myelination responding to ketogenic diet. Pediatric Neurology. 37: 130-3. PMID 17675029 DOI: 10.1016/j.pediatrneurol.2007.03.009  1
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  1
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  1
2007 Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J, Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krägeloh-Mann I, Smeitink JA, Florentz C, Van Coster R, ... ... van der Knaap MS, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nature Genetics. 39: 534-9. PMID 17384640 DOI: 10.1038/ng2013  1
2007 Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, Dweikat I, Wexler ID, Salomons GS. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 11: 81-9. PMID 17188916 DOI: 10.1016/j.ejpn.2006.11.006  1
2006 Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology. 67: 2066-9. PMID 17159124 DOI: 10.1212/01.wnl.0000247666.28904.35  1
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  1
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  1
2006 Kaczorowska M, Kuczynski D, Jurkiewicz E, Scheper GC, van der Knaap MS, Jozwiak S. Acute fright induces onset of symptoms in vanishing white matter disease-case report. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 10: 192-3. PMID 16952472 DOI: 10.1016/j.ejpn.2006.05.008  1
2006 Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, ... van der Knaap MS, et al. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nature Genetics. 38: 1111-3. PMID 16951682 DOI: 10.1038/ng1870  1
2006 Mascalchi M, De Grandis D, Ginestroni A, Pratesi A, Della Nave R, Scheper GC, van der Knaap MS. Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy. Neurology. 67: 537-8. PMID 16894129 DOI: 10.1212/01.wnl.0000227920.57400.69  1
2006 Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, ... ... van der Knaap MS, et al. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 67: 480-4. PMID 16855203 DOI: 10.1212/01.wnl.0000234852.43688.bf  1
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  1
2006 Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, SzymaÅ„ska 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  1
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  1
2006 Petzold GC, Bohner G, Klingebiel R, Amberger N, van der Knaap MS, Zschenderlein R. Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. Journal of Neurology, Neurosurgery, and Psychiatry. 77: 889-91. PMID 16788019 DOI: 10.1136/jnnp.2005.078568  1
2006 Feenstra I, van Ravenswaaij CM, van der Knaap MS, Willemsen MA. Neuroimaging in nine patients with inversion duplication of the short arm of chromosome 8. Neuropediatrics. 37: 83-7. PMID 16773506 DOI: 10.1055/s-2006-924108  1
2006 Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, Brenner C, van der Knaap MS, Scheper GC, Pronk JC. Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1. Human Mutation. 27: 505-12. PMID 16652334 DOI: 10.1002/humu.20332  1
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  1
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  1
2006 van der Knaap MS, Scheper GC. Non-eIF2B-related cystic leukoencephalopathy of unknown origin. Annals of Neurology. 59: 724. PMID 16566013 DOI: 10.1002/ana.20802  1
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  1
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  1
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  1
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  1
2006 Li R, Johnson AB, Salomons GS, van der Knaap MS, Rodriguez D, Boespflug-Tanguy O, Gorospe JR, Goldman JE, Messing A, Brenner M. Propensity for paternal inheritance of de novo mutations in Alexander disease. Human Genetics. 119: 137-44. PMID 16365765 DOI: 10.1007/s00439-005-0116-7  1
2006 van Kollenburg B, Thomas AA, Vermeulen G, Bertrand GA, van Berkel CG, Pronk JC, Proud CG, van der Knaap MS, Scheper GC. Regulation of protein synthesis in lymphoblasts from vanishing white matter patients. Neurobiology of Disease. 21: 496-504. PMID 16185887 DOI: 10.1016/j.nbd.2005.08.009  1
2006 Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, van Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, et al. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. Journal of Medical Genetics. 43: 444-50. PMID 15908569 DOI: 10.1136/jmg.2005.031880  1
2006 Van Der Knaap MS, Scheper GC. Positive genetic analysis provides the ultimate diagnostic confirmation [2] Annals of Neurology. 60: 485-486. DOI: 10.1002/ana.21003  1
2006 De Kort SWK, De Man SA, Hoogeboom AJM, Pouwels PJW, Van Der Knaap MS, Mancini GMS, Salomons GS. X-linked mental retardation due to creatine transporter defect | X-gebonden mentale retardatie door creatine transporter defect Tijdschrift Voor Kindergeneeskunde. 74: 173-178.  1
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  1
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  1
2005 Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM. Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences. 823: 18-25. PMID 16055050 DOI: 10.1016/j.jchromb.2005.01.001  1
2005 Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, ... ... Van der Knaap MS, et al. Clinical and mutational spectrum of Mowat-Wilson syndrome. European Journal of Medical Genetics. 48: 97-111. PMID 16053902 DOI: 10.1016/j.ejmg.2005.01.003  1
2005 Tatli B, Ozmen M, Aydinli N, Caliskan M, Wertheim-van Dillen PM, van der Knaap MS. Not a new leukodystrophy but congenital cytomegalovirus infection Journal of Child Neurology. 20: 525-527. PMID 15996404  1
2005 Mercimek-Mahmutoglu S, van der Knaap MS, Baric I, Prayer D, Stoeckler-Ipsiroglu S. Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case. Neuropediatrics. 36: 223-6. PMID 15944912 DOI: 10.1055/s-2005-865715  1
2005 Jurkiewicz E, Mierzewska H, BekiesiÅ„ska-Figatowska M, Pakua-KoÅ›ciesza 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  1
2005 Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (New York, N.Y.). 308: 1167-71. PMID 15905400 DOI: 10.1126/science.1109418  1
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  1
2005 Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. Journal of Inherited Metabolic Disease. 28: 169-79. PMID 15877206 DOI: 10.1007/s10545-005-5261-6  0.48
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  1
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  1
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  1
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  1
2005 Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. American Journal of Medical Genetics. Part A. 132: 288-95. PMID 15690373 DOI: 10.1002/ajmg.a.30473  0.48
2004 Huck JH, Verhoeven NM, van Hagen JM, Jakobs C, van der Knaap MS. Clinical presentations of patients with polyol abnormalities. Neuropediatrics. 35: 167-73. PMID 15248099 DOI: 10.1055/s-2004-820918  1
2004 Huck JH, Roos B, Jakobs C, van der Knaap MS, Verhoeven NM. Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism. Molecular Genetics and Metabolism. 82: 231-7. PMID 15234337 DOI: 10.1016/j.ymgme.2004.05.003  1
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  0.52
2004 Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF. Neurology. 62: 1503-8. PMID 15136672  1
2004 Grossman CE, Niland B, Stancato C, Verhoeven NM, Van Der Knaap MS, Jakobs C, Brown LM, Vajda S, Banki K, Perl A. Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase. The Biochemical Journal. 382: 725-31. PMID 15115436 DOI: 10.1042/BJ20040413  0.48
2004 van der Voorn JP, Kamphorst W, van der Knaap MS, Powers JM. The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. Acta Neuropathologica. 107: 539-45. PMID 15042387 DOI: 10.1007/s00401-004-0848-9  0.52
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  1
2004 Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. American Journal of Human Genetics. 74: 745-51. PMID 14988808 DOI: 10.1086/383204  1
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  0.64
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  0.72
2004 Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. Clinical Chemistry. 50: 441-3. PMID 14752017 DOI: 10.1373/clinchem.2003.022764  0.48
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  1
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  1
2003 Vermeulen RJ, Sie LT, Jonkman EJ, Strijers RL, Lafeber HN, Uitdehaag BM, van der Knaap MS. Predictive value of EEG in neonates with periventricular leukomalacia. Developmental Medicine and Child Neurology. 45: 586-90. PMID 12948325  0.72
2003 Clarke NF, Andrews I, Carpenter K, Jakobs C, van der Knaap MS, Kirk EP. D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. American Journal of Medical Genetics. Part A. 120: 523-7. PMID 12884432 DOI: 10.1002/ajmg.a.20120  0.48
2003 Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS. Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clinical Chemistry. 49: 1375-80. PMID 12881455 DOI: 10.1373/49.8.1375  1
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  0.72
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  1
2002 Schelhaas HJ, Van Engelen BG, Gabreëls-Festen AA, Hageman G, Vliegen JH, Van Der Knaap MS, Zwarts MJ. Transient cerebral white matter lesions in a patient with connexin 32 missense mutation. Neurology. 59: 2007-8. PMID 12499506  1
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  1
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  1
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  1
2002 Wajne M, Vargas CR, Funayama C, Fernandez A, Elias ML, Goodman SI, Jakobs C, van der Knaap MS. D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings. Journal of Inherited Metabolic Disease. 25: 28-34. PMID 11999977  0.48
2002 Garbern JY, Yool DA, Moore GJ, Wilds IB, Faulk MW, Klugmann M, Nave KA, Sistermans EA, van der Knaap MS, Bird TD, Shy ME, Kamholz JA, Griffiths IR. Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain : a Journal of Neurology. 125: 551-61. PMID 11872612  1
2002 Bergert R, Poppe M, Hahn G, Kabus M, Seibel M, Van der Knaap MS, Seibel P. Hypertensive crisis in Leigh syndrome: A case report of an eight year old patient with varying central lesions and nt 8993 T to C mutation | Hypertensive krise als manifestation eines Leigh-syndroms bei einem 8-jährigen mädchen mit ungewöhnlichem klinischen verlauf und nachweis einer mtDNA nt 8993 (T→C) mutation Monatsschrift Fur Kinderheilkunde. 150: 989-995. DOI: 10.1007/s001120100307  0.4
2001 Sie LTL, Rombouts SA, Valk IJ, Hart AA, Scheltens P, van der Knaap MS. Functional MRI of visual cortex in sedated 18 month-old infants with or without periventricular leukomalacia. Developmental Medicine and Child Neurology. 43: 486-90. PMID 11463181  1
2001 Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA. In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism. Nmr in Biomedicine. 14: 167-76. PMID 11357181 DOI: 10.1002/nbm.690  0.72
2001 Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. American Journal of Human Genetics. 68: 1086-92. PMID 11283793 DOI: 10.1086/320108  1
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  0.64
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  1
2000 Verhoeven NM, Guérand WS, Struys EA, Bouman AA, van der Knaap MS, Jakobs C. Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall. Journal of Inherited Metabolic Disease. 23: 835-40. PMID 11196109  0.48
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  1
2000 Vaal J, van Soest AJ, Hopkins B, Sie LT, van der Knaap MS. Development of spontaneous leg movements in infants with and without periventricular leukomalacia. Experimental Brain Research. 135: 94-105. PMID 11104131  0.48
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  1
2000 Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics. 31: 137-40. PMID 10963100 DOI: 10.1055/s-2000-7497  0.48
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  1
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  1
2000 van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stöckler-Ipsiroglu S, Jakobs C. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Annals of Neurology. 47: 540-3. PMID 10762171  0.72
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  1
1999 van Wezel-Meijler G, Hummel TZ, Oosting J, de Groot L, Sie LT, Huisman J, Lafeber HN, van der Knaap MS. Unilateral thalamic lesions in premature infants: risk factors and short-term prognosis. Neuropediatrics. 30: 300-6. PMID 10706024 DOI: 10.1055/s-2007-973509  0.64
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  1
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  1
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  1
1999 van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. D-2-hydroxyglutaric aciduria: further clinical delineation. Journal of Inherited Metabolic Disease. 22: 404-13. PMID 10407777  0.48
1999 van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, et al. D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Annals of Neurology. 45: 111-9. PMID 9894884  0.48
1998 Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. Journal of Pharmaceutical and Biomedical Analysis. 18: 659-65. PMID 9919967  0.48
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  1
1998 van Wezel-Meijler G, van der Knaap MS, Sie LT, Oosting J, van Amerongen AH, Cranendonk A, Lafeber HN. Magnetic resonance imaging of the brain in premature infants during the neonatal period. Normal phenomena and reflection of mild ultrasound abnormalities. Neuropediatrics. 29: 89-96. PMID 9638663 DOI: 10.1055/s-2007-973541  0.64
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  1
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  1
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  1
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  1
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  1
1996 van der Knaap MS, Wevers RA, Monnens L, Jakobs C, Jaeken J, van Wijk JA. Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome. Journal of Inherited Metabolic Disease. 19: 787-91. PMID 8982953  0.48
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
1994 van der Knaap MS, Barth PG. Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins. American Journal of Medical Genetics. 52: 218-22. PMID 7802012 DOI: 10.1002/ajmg.1320520218  0.64
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  1
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  1
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  1
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  1
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  1
1992 Valk J, van der Knaap MS. Toxic encephalopathy. Ajnr. American Journal of Neuroradiology. 13: 747-60. PMID 1348902  1
1991 Valk J, van der Knaap MS. White matter disorders. Current Opinion in Neurology and Neurosurgery. 4: 843-51. PMID 10146206  1
1991 van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology. 33: 30-7. PMID 2027442 DOI: 10.1007/BF00593330  1
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  1
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  1
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  1
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  1
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  0.4
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  1
1989 Van der Knaap MS. [NMR diagnosis of tuberous sclerosis]. Tijdschrift Voor Kindergeneeskunde. 57: 164-7. PMID 2683202  0.4
1989 van der Knaap MS, Valk J. MR of adrenoleukodystrophy: histopathologic correlations. Ajnr. American Journal of Neuroradiology. 10: S12-4. PMID 2505549  1
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  1
1988 van der Knaap MS, Valk J. Classification of congenital abnormalities of the CNS. Ajnr. American Journal of Neuroradiology. 9: 315-26. PMID 3128080  1
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