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Items: 1 to 50 of 380

1.

Vanishing white matter: deregulated integrated stress response as therapy target.

Abbink TEM, Wisse LE, Jaku E, Thiecke MJ, Voltolini-González D, Fritsen H, Bobeldijk S, Ter Braak TJ, Polder E, Postma NL, Bugiani M, Struijs EA, Verheijen M, Straat N, van der Sluis S, Thomas AAM, Molenaar D, van der Knaap MS.

Ann Clin Transl Neurol. 2019 Aug;6(8):1407-1422. doi: 10.1002/acn3.50826. Epub 2019 Jul 18.

2.

Diagnosis, prognosis, and treatment of leukodystrophies.

van der Knaap MS, Schiffmann R, Mochel F, Wolf NI.

Lancet Neurol. 2019 Jul 12. pii: S1474-4422(19)30143-7. doi: 10.1016/S1474-4422(19)30143-7. [Epub ahead of print] Review.

PMID:
31307818
3.

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Kaur P, Wamelink MMC, van der Knaap MS, Girisha KM, Shukla A.

Eur J Med Genet. 2019 Aug;62(8):103708. doi: 10.1016/j.ejmg.2019.103708. Epub 2019 Jun 25.

PMID:
31247379
4.

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.

van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Feb 20 [updated 2019 Apr 4].

5.

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Pop A, Struys EA, Jansen EEW, Fernandez MR, Kanhai WA, van Dooren SJM, Ozturk S, van Oostendorp J, Lennertz P, Kranendijk M, van der Knaap MS, Gibson KM, van Schaftingen E, Salomons GS.

Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13.

6.

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter.

Dooves S, Leferink PS, Krabbenborg S, Breeuwsma N, Bots S, Hillen AEJ, Jacobs G, van der Knaap MS, Heine VM.

Stem Cell Reports. 2019 Mar 5;12(3):441-450. doi: 10.1016/j.stemcr.2019.01.018. Epub 2019 Feb 21.

7.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8.

PMID:
30737337
8.

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome.

Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C.

Neurology. 2019 Feb 5;92(6):e587-e593. doi: 10.1212/WNL.0000000000006886. Epub 2019 Jan 11.

PMID:
30635494
9.

Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.

Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER, Groebner R, Zschocke J, van der Knaap MS.

Neurogenetics. 2019 Mar;20(1):1-8. doi: 10.1007/s10048-018-0560-x. Epub 2018 Dec 8.

10.

Severe TUBB4A-Related Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum: Novel Neuropathological Findings.

Joyal KM, Michaud J, van der Knaap MS, Bugiani M, Venkateswaran S.

J Neuropathol Exp Neurol. 2019 Jan 1;78(1):3-9. doi: 10.1093/jnen/nly105.

PMID:
30476126
11.

Leukodystrophies - much more than just diseases of myelin.

van der Knaap MS, Bugiani M.

Nat Rev Neurol. 2018 Dec;14(12):747-748. doi: 10.1038/s41582-018-0093-9. No abstract available.

PMID:
30341432
12.

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N.

J Hum Genet. 2018 Dec;63(12):1223-1229. doi: 10.1038/s10038-018-0516-x. Epub 2018 Sep 27.

PMID:
30258207
13.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM.

Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330.

PMID:
30239721
14.

Natural History of Vanishing White Matter.

Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group, van der Knaap MS.

Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.

15.

A novel complex neurological phenotype due to a homozygous mutation in FDX2.

Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F.

Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172.

16.

A brother and sister with intellectual disability and characteristic neuroimaging findings.

Hermens M, van der Knaap MS, Kamsteeg EJ, Willemsen MA.

Eur J Paediatr Neurol. 2018 Sep;22(5):866-869. doi: 10.1016/j.ejpn.2018.06.005. Epub 2018 Jun 25.

PMID:
29970281
17.

Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy.

van der Knaap MS, Abbink TEM.

Clin Neurol Neurosurg. 2018 Aug;171:195. doi: 10.1016/j.clineuro.2018.06.024. Epub 2018 Jun 22. No abstract available.

PMID:
29954622
18.

Intrathecal baclofen in metachromatic leukodystrophy.

van der Veldt N, van Rappard DF, van de Pol LA, van der Knaap MS, van Ouwerkerk WJR, Becher JG, Wolf NI, Buizer AI.

Dev Med Child Neurol. 2019 Feb;61(2):232-235. doi: 10.1111/dmcn.13919. Epub 2018 May 27.

PMID:
29806077
19.

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Bugiani M, Vuong C, Breur M, van der Knaap MS.

Brain Pathol. 2018 May;28(3):408-421. doi: 10.1111/bpa.12606. Review.

PMID:
29740943
20.

Genetic defects disrupting glial ion and water homeostasis in the brain.

Min R, van der Knaap MS.

Brain Pathol. 2018 May;28(3):372-387. doi: 10.1111/bpa.12602. Review.

PMID:
29740942
21.

Axonal abnormalities in vanishing white matter.

Klok MD, Bugiani M, de Vries SI, Gerritsen W, Breur M, van der Sluis S, Heine VM, Kole MHP, Baron W, van der Knaap MS.

Ann Clin Transl Neurol. 2018 Mar 1;5(4):429-444. doi: 10.1002/acn3.540. eCollection 2018 Apr.

22.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group.

Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21.

23.

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

Stutterd CA, Lake NJ, Peters H, Lockhart PJ, Taft RJ, van der Knaap MS, Vanderver A, Thorburn DR, Simons C, Leventer RJ.

JIMD Rep. 2019;43:63-70. doi: 10.1007/8904_2018_100. Epub 2018 Apr 14.

24.

Megalencephalic Leukoencephalopathy with Subcortical Cysts.

van der Knaap MS, Abbink TEM, Min R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Aug 11 [updated 2018 Mar 29].

25.

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

Sharma S, Singh P, Fernandez-Vizarra E, Zeviani M, Van der Knaap MS, Saran RK.

J Child Neurol. 2018 May;33(6):428-431. doi: 10.1177/0883073818760875. Epub 2018 Mar 26.

PMID:
29577824
26.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Mendes MI, Gutierrez Salazar M, Guerrero K, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI, Bernard G.

Am J Hum Genet. 2018 Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22.

27.

Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro.

Wisse LE, Ter Braak TJ, van de Beek MC, van Berkel CGM, Wortel J, Heine VM, Proud CG, van der Knaap MS, Abbink TEM.

Sci Rep. 2018 Feb 28;8(1):3773. doi: 10.1038/s41598-018-21885-x.

28.

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.

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.

Ann Neurol. 2018 Mar;83(3):636-649. doi: 10.1002/ana.25190. Epub 2018 Mar 13.

29.

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Simons C, Dyment D, van der Knaap MS, Wolf NI.

Brain. 2018 May 1;141(5):e37. doi: 10.1093/brain/awy030. No abstract available.

PMID:
29444246
30.

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy.

van Rappard DF, de Vries ALC, Oostrom KJ, Boelens JJ, Hollak CEM, van der Knaap MS, Wolf NI.

J Am Acad Child Adolesc Psychiatry. 2018 Feb;57(2):74-76. doi: 10.1016/j.jaac.2017.11.017. No abstract available.

PMID:
29413149
31.

Diffusion tensor imaging in metachromatic leukodystrophy.

van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW.

J Neurol. 2018 Mar;265(3):659-668. doi: 10.1007/s00415-018-8765-3. Epub 2018 Jan 30.

32.

Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions.

Wisse LE, Penning R, Zaal EA, van Berkel CGM, Ter Braak TJ, Polder E, Kenney JW, Proud CG, Berkers CR, Altelaar MAF, Speijer D, van der Knaap MS, Abbink TEM.

Front Cell Neurosci. 2017 Dec 20;11:411. doi: 10.3389/fncel.2017.00411. eCollection 2017.

33.

Affected astrocytes in the spinal cord of the leukodystrophy vanishing white matter.

Leferink PS, Breeuwsma N, Bugiani M, van der Knaap MS, Heine VM.

Glia. 2018 Apr;66(4):862-873. doi: 10.1002/glia.23289. Epub 2017 Dec 29.

34.

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Green L, Berry IR, Childs AM, McCullagh H, Jose S, Warren D, Craven I, Camm N, Prescott K, van der Knaap MS, Sheridan E, Livingston JH.

Neuropediatrics. 2018 Apr;49(2):118-122. doi: 10.1055/s-0037-1608921. Epub 2017 Dec 18.

PMID:
29253910
35.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

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; Care4Rare Consortium, van der Knaap MS, Wolf NI.

Brain. 2017 Dec 1;140(12):3105-3111. doi: 10.1093/brain/awx314.

36.

4H Leukodystrophy: Lessons from 3T Imaging.

Cayami FK, Bugiani M, Pouwels PJW, Bernard G, van der Knaap MS, Wolf NI.

Neuropediatrics. 2018 Apr;49(2):112-117. doi: 10.1055/s-0037-1608780. Epub 2017 Nov 27.

PMID:
29179231
37.

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

Peeters-Scholte CMPCD, Adama van Scheltema PN, Klumper FJCM, Everwijn SMP, Koopmans M, Hoffer MJV, Koopmann TT, Ruivenkamp CAL, Steggerda SJ, van der Knaap MS, Santen GWE.

Brain. 2017 Nov 1;140(11):e66. doi: 10.1093/brain/awx239. No abstract available.

PMID:
29053797
38.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A.

Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338.

PMID:
28973395
39.

Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment.

Dooves S, Bugiani M, Wisse LE, Abbink TEM, van der Knaap MS, Heine VM.

Neuropathol Appl Neurobiol. 2018 Jun;44(4):391-403. doi: 10.1111/nan.12411. Epub 2017 Aug 1.

PMID:
28953319
40.

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

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, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group.

Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20.

41.

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment.

van Rappard DF, Klauser A, Steenweg ME, Boelens JJ, Bugiani M, van der Knaap MS, Wolf NI, Pouwels PJW.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):105-111. doi: 10.1136/jnnp-2017-316364. Epub 2017 Sep 9.

PMID:
28889092
42.

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Peragallo JH, Keller S, van der Knaap MS, Soares BP, Shankar SP.

Ophthalmic Genet. 2018 Jan-Feb;39(1):99-102. doi: 10.1080/13816810.2017.1350723. Epub 2017 Aug 18.

43.

Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy.

Naik N, Shah A, Wamelink MMC, van der Knaap MS, Hingwala D.

Neurology. 2017 Sep 12;89(11):1195-1196. doi: 10.1212/WNL.0000000000004361. Epub 2017 Aug 11. No abstract available.

PMID:
28801340
44.

Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations.

Zeydan B, Uygunoglu U, Altintas A, Saip S, Siva A, Abbink TEM, van der Knaap MS, Yalcinkaya C.

Eur Neurol. 2017;78(3-4):125-127. doi: 10.1159/000478089. Epub 2017 Jul 26. No abstract available.

45.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A.

Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20.

46.

Childhood white matter disorders: much more than just diseases of myelin.

Bugiani M, van der Knaap MS.

Acta Neuropathol. 2017 Sep;134(3):329-330. doi: 10.1007/s00401-017-1750-6. No abstract available.

PMID:
28725966
47.

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.

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.

Ann Clin Transl Neurol. 2017 Jun 6;4(7):450-465. doi: 10.1002/acn3.405. eCollection 2017 Jul.

48.

Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.

van der Knaap MS, Bugiani M.

Acta Neuropathol. 2017 Sep;134(3):351-382. doi: 10.1007/s00401-017-1739-1. Epub 2017 Jun 21. Review.

49.

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.

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.

Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1.

PMID:
28561206
50.

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis.

Stelten BML, van der Knaap MS, Wevers RA, Verrips A.

Pediatr Neurol. 2017 Aug;73:98-100. doi: 10.1016/j.pediatrneurol.2017.04.007. Epub 2017 Apr 18.

PMID:
28554492

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