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Items: 1 to 50 of 91

1.

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A.

Neurology. 2019 Jan 8;92(2):e83-e95. doi: 10.1212/WNL.0000000000006731. Epub 2018 Dec 7.

PMID:
30530799
2.

Mycoplasma Pneumoniae and Antibodies against Galactocerebroside in a 9-Year-Old Boy with Encephalitis.

Smolders J, Jacobs BC, Tio-Gillen AP, Nijhuis F, Verrips A.

Neuropediatrics. 2019 Feb;50(1):54-56. doi: 10.1055/s-0038-1676054. Epub 2018 Nov 26.

PMID:
30477031
3.

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality.

Chan SHS, van Alfen N, Thuestad IJ, Ip J, Chan AO, Mak C, Chung BH, Verrips A, Kamsteeg EJ.

Neuromuscul Disord. 2018 Sep;28(9):750-756. doi: 10.1016/j.nmd.2018.07.002. Epub 2018 Jul 20.

PMID:
30122514
4.

Movement disorders in cerebrotendinous xanthomatosis.

Stelten BML, van de Warrenburg BPC, Wevers RA, Verrips A.

Parkinsonism Relat Disord. 2018 Jul 19. pii: S1353-8020(18)30310-9. doi: 10.1016/j.parkreldis.2018.07.006. [Epub ahead of print] Review.

PMID:
30054180
5.

Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2.

van Vliet J, Tieleman AA, Verrips A, Timmerman H, van Dongen RTM, van Engelen BGM, Wilder-Smith OHG.

J Pain. 2018 Aug;19(8):920-930. doi: 10.1016/j.jpain.2018.03.006. Epub 2018 Mar 27.

PMID:
29601898
6.

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

de Mol CL, Wong YYM, van Pelt ED, Ketelslegers IA, Bakker DP, Boon M, Braun KPJ, van Dijk KGJ, Eikelenboom MJ, Engelen M, Geleijns K, Haaxma CA, Niermeijer JMF, Niks EH, Peeters EAJ, Peeters-Scholte CMPCD, Poll-The BT, Portier RP, de Rijk-van Andel JF, Samijn JPA, Schippers HM, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Visscher F, Vles JSH, Willemsen MAAP, Catsman-Berrevoets CE, Hintzen RQ, Neuteboom RF.

J Neurol. 2018 Jun;265(6):1310-1319. doi: 10.1007/s00415-018-8835-6. Epub 2018 Mar 22.

7.

Extremely Painful Multifocal Acquired Predominant Axonal Sensorimotor Neuropathy of the Upper Limb.

Lieba-Samal D, van Eijk JJJ, van Rosmalen MHJ, van Balken IMF, Verrips A, Mostert J, Pillen S, van Alfen N.

J Ultrasound Med. 2018 Jun;37(6):1565-1574. doi: 10.1002/jum.14492. Epub 2017 Nov 21.

PMID:
29159899
8.

Negative Myoclonus Induced by Ciprofloxacin.

van Samkar A, De Kleermaeker FGCM, Te Riele MGE, Verrips A.

Tremor Other Hyperkinet Mov (N Y). 2017 Sep 6;7:500. doi: 10.7916/D8QC0FXT. eCollection 2017.

9.

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A.

J Inherit Metab Dis. 2018 Jul;41(4):641-646. doi: 10.1007/s10545-017-0086-7. Epub 2017 Sep 11.

PMID:
28894950
10.

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.

Galama WH, Verhaagen-van den Akker SLJ, Lefeber DJ, Feenstra I, Verrips A.

JIMD Rep. 2018;40:11-16. doi: 10.1007/8904_2017_53. Epub 2017 Sep 9.

11.

Teaching Video NeuroImages: Nine syndrome in inferior paramedian pontine infarction: More than meets the eye.

Maas RPPWM, Verrips A.

Neurology. 2017 Aug 22;89(8):e95-e96. doi: 10.1212/WNL.0000000000004271. No abstract available.

PMID:
28827468
12.

Pulsatile Proptosis due to Intraorbital Meningocele.

van Rumund A, Verrips A, Verhagen WIM.

Front Neurol. 2017 Jun 19;8:290. doi: 10.3389/fneur.2017.00290. eCollection 2017.

13.

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
14.

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

Vaz FM, Bootsma AH, Kulik W, Verrips A, Wevers RA, Schielen PC, DeBarber AE, Huidekoper HH.

J Lipid Res. 2017 May;58(5):1002-1007. doi: 10.1194/jlr.P075051. Epub 2017 Mar 17.

15.

No relevant excess prevalence of myotonic dystrophy type 2 in patients with suspected fibromyalgia syndrome.

van Vliet J, Verrips A, Tieleman AA, Scheffer H, Cats HA, den Broeder AA, van Engelen BG.

Neuromuscul Disord. 2016 Jun;26(6):370-3. doi: 10.1016/j.nmd.2016.03.009. Epub 2016 Apr 6.

PMID:
27132119
16.

The value of routine creatine kinase and thyroid stimulating hormone testing in patients with suspected fibromyalgia: a cross-sectional study.

Lesuis N, van Vliet J, Boers N, den Broeder N, Cats H, Hulscher ME, Verrips A, den Broeder AA.

Rheumatology (Oxford). 2016 Jul;55(7):1273-6. doi: 10.1093/rheumatology/kew046. Epub 2016 Mar 30.

PMID:
27032423
17.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.130. No abstract available.

18.

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Huidekoper HH, Vaz FM, Verrips A, Bosch AM.

Eur J Pediatr. 2016 Jan;175(1):143-6. doi: 10.1007/s00431-015-2584-7. Epub 2015 Jul 10.

19.

It is in his eyes.

Kasius KM, Vrugt-Trienekens S, Verrips A.

Acta Neurol Belg. 2015 Dec;115(4):721-2. doi: 10.1007/s13760-015-0486-0. Epub 2015 May 22. No abstract available.

PMID:
25997887
20.

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.

van Geel BM, Poll-The BT, Verrips A, Boelens JJ, Kemp S, Engelen M.

J Inherit Metab Dis. 2015 Mar;38(2):359-61. doi: 10.1007/s10545-014-9797-1. Epub 2014 Dec 9.

PMID:
25488625
21.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T.

Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270.

22.

Reply: To PMID 24817269.

Pillen S, Semmekrot B, Meulstee J, Verrips A, van Alfen N.

Muscle Nerve. 2015 Apr;51(4):626-7. doi: 10.1002/mus.24511. Epub 2015 Jan 16. No abstract available.

PMID:
25387863
23.

Severe hypomagnesaemia causing reversible cerebellopathy.

Te Riele MG, Verrips A.

Cerebellum. 2014 Oct;13(5):659-62. doi: 10.1007/s12311-014-0567-2.

PMID:
24838431
24.

Ultrasound of the cervical roots and brachial plexus in neonates.

Pillen S, Semmekrot B, Meulstee J, Verrips A, Van Alfen N.

Muscle Nerve. 2015 Jan;51(1):35-41. doi: 10.1002/mus.24284. Epub 2014 Jun 17.

PMID:
24817269
25.

[Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease].

Jacobse CJ, Verrips A, Terhal PA, Nievelstein R, Rump P.

Ned Tijdschr Geneeskd. 2014;158(2):A6604. Dutch.

PMID:
24405897
26.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

27.

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH.

Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6.

PMID:
23566544
28.

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ.

J Neurol. 2013 Jul;260(7):1765-9. doi: 10.1007/s00415-013-6870-x. Epub 2013 Mar 2.

PMID:
23455931
29.

Transient Tournay's pupillary phenomenon in a patient with a vertebrobasilar TIA.

van Vliet J, Verhagen WI, Verrips A.

Clin Neurol Neurosurg. 2012 Dec;114(10):1374-5. doi: 10.1016/j.clineuro.2012.03.025. Epub 2012 Apr 17. No abstract available.

PMID:
22512948
30.

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.

Klooster R, Plomp JJ, Huijbers MG, Niks EH, Straasheijm KR, Detmers FJ, Hermans PW, Sleijpen K, Verrips A, Losen M, Martinez-Martinez P, De Baets MH, van der Maarel SM, Verschuuren JJ.

Brain. 2012 Apr;135(Pt 4):1081-101. doi: 10.1093/brain/aws025. Epub 2012 Mar 6.

PMID:
22396395
31.

Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.

Ketelslegers IA, Catsman-Berrevoets CE, Neuteboom RF, Boon M, van Dijk KG, Eikelenboom MJ, Gooskens RH, Niks EH, Overweg-Plandsoen WC, Peeters EA, Peeters-Scholte CM, Poll-The BT, de Rijk-van Andel JF, Samijn JP, Snoeck IN, Stroink H, Vermeulen RJ, Verrips A, Vles JS, Willemsen MA, Rodrigues Pereira R, Hintzen RQ.

J Neurol. 2012 Sep;259(9):1929-35. doi: 10.1007/s00415-012-6441-6. Epub 2012 Feb 17.

32.

Gastro-enteritis in hypokalemic periodic paralysis: a life threatening condition.

Ebus S, Verrips A, Ginjaar IB, Verhagen WI.

Clin Neurol Neurosurg. 2012 Jul;114(6):801-2. doi: 10.1016/j.clineuro.2011.12.046. Epub 2012 Feb 5. No abstract available.

PMID:
22311001
33.

Giant aneurysm with dolichoectasia involving the carotid artery system.

van Vliet J, Verrips A.

Acta Neurol Belg. 2011 Sep;111(3):259. No abstract available.

PMID:
22141300
34.

Clinical phenotype of 5 females with a CDKL5 mutation.

Stalpers XL, Spruijt L, Yntema HG, Verrips A.

J Child Neurol. 2012 Jan;27(1):90-3. doi: 10.1177/0883073811413832. Epub 2011 Jul 15.

PMID:
21765152
35.

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A.

Neuromuscul Disord. 2011 Nov;21(11):812-5. doi: 10.1016/j.nmd.2011.05.005. Epub 2011 Jun 30.

PMID:
21723124
36.

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.

Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD.

Am J Med Genet A. 2010 Apr;152A(4):863-9. doi: 10.1002/ajmg.a.33240.

37.

Hiccups, nausea, and vomiting: water channels under attack!

Riphagen J, Modderman P, Verrips A.

Lancet. 2010 Mar 13;375(9718):954. doi: 10.1016/S0140-6736(09)62066-3. No abstract available.

PMID:
20226992
38.

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

Jansen C, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ.

Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3. Review.

39.

Postural headache in marfan syndrome associated with spinal cysts and liquor hypotension.

Voermans NC, Dijk KG, Bos MM, Geus-Oei LF, Verrips A, Lindert EJ.

Neuropediatrics. 2009 Aug;40(4):201-4. doi: 10.1055/s-0029-1243164. Epub 2010 Feb 4.

PMID:
20135580
40.

[The right medicine for cerebrotendinous xanthomatosis].

Verrips A, Wevers RA, van Spronsen FJ, Sikkens H.

Ned Tijdschr Geneeskd. 2009 Apr 11;153(15):726-7. Dutch. No abstract available.

PMID:
19452779
41.

Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity.

Pillen S, Tak RO, Zwarts MJ, Lammens MM, Verrijp KN, Arts IM, van der Laak JA, Hoogerbrugge PM, van Engelen BG, Verrips A.

Ultrasound Med Biol. 2009 Mar;35(3):443-6. doi: 10.1016/j.ultrasmedbio.2008.09.016. Epub 2008 Dec 10.

PMID:
19081667
42.

A previously healthy 11-year-old girl with behavioural disturbances, desquamation of the skin and loss of teeth.

van der Linde AA, Lewiszong-Rutjens CA, Verrips A, Gerrits GP.

Eur J Pediatr. 2009 Apr;168(4):509-11. doi: 10.1007/s00431-008-0851-6. Epub 2008 Nov 29.

PMID:
19043736
43.

Elevated cholesterol precursors other than cholestanol can also be a hallmark for CTX.

de Sain-van der Velden MG, Verrips A, Prinsen BH, de Barse M, Berger R, Visser G.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S387-93. doi: 10.1007/s10545-008-0963-1. Epub 2008 Oct 24.

PMID:
18949577
44.

Prognostic factors after a first attack of inflammatory CNS demyelination in children.

Neuteboom RF, Boon M, Catsman Berrevoets CE, Vles JS, Gooskens RH, Stroink H, Vermeulen RJ, Rotteveel JJ, Ketelslegers IA, Peeters E, Poll-The BT, De Rijk-Van Andel JF, Verrips A, Hintzen RQ.

Neurology. 2008 Sep 23;71(13):967-73. doi: 10.1212/01.wnl.0000316193.89691.e1. Epub 2008 Jul 30.

PMID:
18672475
45.

A transient neonatal myasthenic syndrome with anti-musk antibodies.

Niks EH, Verrips A, Semmekrot BA, Prick MJ, Vincent A, van Tol MJ, Jol-van der Zijde CM, Verschuuren JJ.

Neurology. 2008 Apr 1;70(14):1215-6. doi: 10.1212/01.wnl.0000307751.20968.f1. No abstract available.

PMID:
18378885
46.

Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease.

Pillen S, Verrips A, van Alfen N, Arts IM, Sie LT, Zwarts MJ.

Neuromuscul Disord. 2007 Jul;17(7):509-16. Epub 2007 May 29.

PMID:
17537635
47.

Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study.

Drost G, Verrips A, van Engelen BG, Stegeman DF, Zwarts MJ.

Mov Disord. 2006 Nov;21(11):2015-8.

PMID:
16972238
48.

Skeletal muscle ultrasonography: Visual versus quantitative evaluation.

Pillen S, van Keimpema M, Nievelstein RA, Verrips A, van Kruijsbergen-Raijmann W, Zwarts MJ.

Ultrasound Med Biol. 2006 Sep;32(9):1315-21.

PMID:
16965971
49.

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreëls FJ, Last JI, Taylor AM.

Neurology. 2006 Jul 25;67(2):346-9.

PMID:
16864838
50.

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.

Hum Mutat. 2006 May;27(5):453-9.

PMID:
16575835

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