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Items: 1 to 50 of 236

1.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.

van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F.

Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0233-0. [Epub ahead of print]

PMID:
30089828
2.

Correction to: Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury.

Königs M, Pouwels PJ, Ernest van Heurn LW, Bakx R, Jeroen Vermeulen R, Goslings JC, Poll-The BT, van der Wees M, Catsman-Berrevoets CE, Oosterlaan J.

Brain Imaging Behav. 2018 Jul 20. doi: 10.1007/s11682-018-9930-0. [Epub ahead of print]

PMID:
30027394
3.

What's new in pontocerebellar hypoplasia? An update on genes and subtypes.

van Dijk T, Baas F, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Review.

4.

The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy.

Klouwer FCC, Koot BGP, Berendse K, Kemper EM, Ferdinandusse S, Koelfat KVK, Lenicek M, Vaz FM, Engelen M, Jansen PLM, Wanders RJA, Waterham HR, Schaap FG, Poll-The BT.

J Inherit Metab Dis. 2018 May 15. doi: 10.1007/s10545-018-0194-z. [Epub ahead of print]

PMID:
29766340
5.

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.

6.

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.

van Dijk T, Vermeij JD, van Koningsbruggen S, Lakeman P, Baas F, Poll-The BT.

J Inherit Metab Dis. 2018 Feb 20. doi: 10.1007/s10545-018-0151-x. [Epub ahead of print]

PMID:
29464431
7.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

PMID:
29356829
8.

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.

PMID:
29186371
9.

Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.

Zeynelabidin S, Klouwer FCC, Meijers JCM, Suijker MH, Engelen M, Poll-The BT, van Ommen CH.

J Inherit Metab Dis. 2018 Mar;41(2):249-255. doi: 10.1007/s10545-017-0113-8. Epub 2017 Nov 14.

10.

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

Timmers ER, Kuiper A, Smit M, Bartels AL, Kamphuis DJ, Wolf NI, Poll-The BT, Wassenberg T, Peeters EAJ, de Koning TJ, Tijssen MAJ.

Parkinsonism Relat Disord. 2017 Dec;45:57-62. doi: 10.1016/j.parkreldis.2017.10.005. Epub 2017 Oct 10.

PMID:
29066160
11.

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution.

Klouwer FCC, Braverman NE, Verkade HJ, Berendse K, Waterham HR, Wanders RJA, Poll-The BT, Koot BGP.

J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):e57. doi: 10.1097/MPG.0000000000001763. No abstract available.

PMID:
28953533
12.

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Klouwer FCC, Meester-Delver A, Vaz FM, Waterham HR, Hennekam RCM, Poll-The BT.

Clin Genet. 2018 Mar;93(3):613-621. doi: 10.1111/cge.13130. Epub 2017 Dec 1.

PMID:
28857144
13.

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

Huffnagel IC, Redeker EJW, Reneman L, Vaz FM, Ferdinandusse S, Poll-The BT.

JIMD Rep. 2018;39:83-87. doi: 10.1007/8904_2017_48. Epub 2017 Jul 29.

14.

Brain atrophy following hemiplegic migraine attacks.

Pelzer N, Hoogeveen ES, Ferrari MD, Poll-The BT, Kruit MC, Terwindt GM.

Cephalalgia. 2018 May;38(6):1199-1202. doi: 10.1177/0333102417723569. Epub 2017 Jul 27.

15.

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.

Klouwer FCC, Ferdinandusse S, van Lenthe H, Kulik W, Wanders RJA, Poll-The BT, Waterham HR, Vaz FM.

J Inherit Metab Dis. 2017 Nov;40(6):875-881. doi: 10.1007/s10545-017-0064-0. Epub 2017 Jul 4.

PMID:
28677031
16.

The structural connectome of children with traumatic brain injury.

Königs M, van Heurn LWE, Bakx R, Vermeulen RJ, Goslings JC, Poll-The BT, van der Wees M, Catsman-Berrevoets CE, Oosterlaan J, Pouwels PJW.

Hum Brain Mapp. 2017 Apr 21. doi: 10.1002/hbm.23614. [Epub ahead of print]

PMID:
28429381
17.

Clinical and Laboratory Diagnosis of Peroxisomal Disorders.

Wanders RJ, Klouwer FC, Ferdinandusse S, Waterham HR, Poll-Thé BT.

Methods Mol Biol. 2017;1595:329-342. doi: 10.1007/978-1-4939-6937-1_30. Review.

PMID:
28409475
18.

Relevance of neuroimaging for neurocognitive and behavioral outcome after pediatric traumatic brain injury.

Königs M, Pouwels PJ, Ernest van Heurn LW, Bakx R, Jeroen Vermeulen R, Carel Goslings J, Poll-The BT, van der Wees M, Catsman-Berrevoets CE, Oosterlaan J.

Brain Imaging Behav. 2018 Feb;12(1):29-43. doi: 10.1007/s11682-017-9673-3. Erratum in: Brain Imaging Behav. 2018 Jul 20;:.

19.

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT.

Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962. Epub 2016 Nov 9. Review.

PMID:
27862915
20.

Pediatric traumatic brain injury affects multisensory integration.

Königs M, Weeda WD, van Heurn LW, Vermeulen RJ, Goslings JC, Luitse JS, Poll-The BT, Beelen A, van der Wees M, Kemps RJ, Catsman-Berrevoets CE, Oosterlaan J.

Neuropsychology. 2017 Feb;31(2):137-148. doi: 10.1037/neu0000302. Epub 2016 Sep 29.

PMID:
27683950
21.

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT.

JIMD Rep. 2017;33:87-92. doi: 10.1007/8904_2016_584. Epub 2016 Sep 29.

22.

The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.

Stepien KM, Wierzbicki AS, Poll-The BT, Waterham HR, Hendriksz CJ.

JIMD Rep. 2017;33:49-53. doi: 10.1007/8904_2016_569. Epub 2016 Aug 13.

23.

Cholic acid therapy in Zellweger spectrum disorders.

Berendse K, Klouwer FC, Koot BG, Kemper EM, Ferdinandusse S, Koelfat KV, Lenicek M, Schaap FG, Waterham HR, Vaz FM, Engelen M, Jansen PL, Wanders RJ, Poll-The BT.

J Inherit Metab Dis. 2016 Nov;39(6):859-868. Epub 2016 Jul 28.

24.

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders.

Klouwer FC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, Poll-The BT.

Neuropediatrics. 2016 Aug;47(4):205-20. doi: 10.1055/s-0036-1582140. Epub 2016 Apr 18. Review.

PMID:
27089543
25.

Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders.

Klouwer FCC, Abdulrahman H, Poll-The BT.

Mol Genet Metab Rep. 2016 Apr 14;11:94. doi: 10.1016/j.ymgmr.2016.03.010. eCollection 2017 Jun. No abstract available.

26.

Diffuse hypomyelination is not obligate for POLR3-related disorders.

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, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G.

Neurology. 2016 Apr 26;86(17):1622-6. doi: 10.1212/WNL.0000000000002612. Epub 2016 Mar 30.

27.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Jaeger B, Abeling NG, Salomons GS, Struys EA, Simas-Mendes M, Geukers VG, Poll-The BT.

Mol Genet Metab Rep. 2016 Feb 10;6:60-3. doi: 10.1016/j.ymgmr.2016.01.004. eCollection 2016 Mar.

28.

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR 2nd, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S.

Pediatr Neurol. 2016 Jun;59:6-12. doi: 10.1016/j.pediatrneurol.2015.12.013. Epub 2016 Jan 11. Review.

PMID:
26995068
29.

Feedback learning and behavior problems after pediatric traumatic brain injury.

Königs M, van Heurn LW, Vermeulen RJ, Goslings JC, Luitse JS, Poll-Thé BT, Beelen A, van der Wees M, Kemps RJ, Catsman-Berrevoets CE, Luman M, Oosterlaan J.

Psychol Med. 2016 May;46(7):1473-84. doi: 10.1017/S0033291716000106. Epub 2016 Mar 8.

PMID:
26951460
30.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R.

Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5.

31.

Impaired Visual Integration in Children with Traumatic Brain Injury: An Observational Study.

Königs M, Weeda WD, van Heurn LW, Vermeulen RJ, Goslings JC, Luitse JS, Poll-Thé BT, Beelen A, van der Wees M, Kemps RJ, Catsman-Berrevoets CE, Oosterlaan J.

PLoS One. 2015 Dec 4;10(12):e0144395. doi: 10.1371/journal.pone.0144395. eCollection 2015.

32.

Zellweger spectrum disorders: clinical overview and management approach.

Klouwer FC, Berendse K, Ferdinandusse S, Wanders RJ, Engelen M, Poll-The BT.

Orphanet J Rare Dis. 2015 Dec 1;10:151. doi: 10.1186/s13023-015-0368-9. Review.

33.

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Berendse K, Engelen M, Ferdinandusse S, Majoie CB, Waterham HR, Vaz FM, Koelman JH, Barth PG, Wanders RJ, Poll-The BT.

J Inherit Metab Dis. 2016 Jan;39(1):93-106. doi: 10.1007/s10545-015-9880-2. Epub 2015 Aug 19.

34.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Bramswig NC, Ockeloen CW, Czeschik JC, van Essen AJ, Pfundt R, Smeitink J, Poll-The BT, Engels H, Strom TM, Wieczorek D, Kleefstra T, Lüdecke HJ.

Hum Genet. 2015 Oct;134(10):1089-97. doi: 10.1007/s00439-015-1590-1. Epub 2015 Aug 12.

PMID:
26264464
35.

Pediatric Traumatic Brain Injury and Attention Deficit.

Königs M, Heij HA, van der Sluijs JA, Vermeulen RJ, Goslings JC, Luitse JS, Poll-Thé BT, Beelen A, van der Wees M, Kemps RJ, Catsman-Berrevoets CE, Oosterlaan J.

Pediatrics. 2015 Sep;136(3):534-41. doi: 10.1542/peds.2015-0437. Epub 2015 Aug 3.

36.

"Role of peroxisomes in human lipid metabolism and its importance for neurological development".

Wanders RJ, Poll-The BT.

Neurosci Lett. 2017 Jan 10;637:11-17. doi: 10.1016/j.neulet.2015.06.018. Epub 2015 Jun 18.

PMID:
26095698
37.

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
38.

Clinical utility gene card for: Zellweger syndrome spectrum.

Rosewich H, Waterham H, Poll-The BT, Ohlenbusch A, Gärtner J.

Eur J Hum Genet. 2015 Aug;23(8). doi: 10.1038/ejhg.2014.250. Epub 2014 Nov 19. No abstract available.

39.

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Berendse K, Engelen M, Linthorst GE, van Trotsenburg AS, Poll-The BT.

Orphanet J Rare Dis. 2014 Sep 2;9:133. doi: 10.1186/s13023-014-0133-5.

40.

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.

Brain. 2015 Feb;138(Pt 2):e326. doi: 10.1093/brain/awu233. Epub 2014 Aug 22. No abstract available.

PMID:
25149411
41.

X-linked adrenoleukodystrophy: pathogenesis and treatment.

Engelen M, Kemp S, Poll-The BT.

Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. Review.

PMID:
25115486
42.

Strokelike episodes and cutis marmorata telangiectatica congenita.

Van Schaik SM, Reneman L, Engelen M, Roos YB, Poll-The BT.

J Child Neurol. 2015 Jan;30(1):129-32. doi: 10.1177/0883073813516675. Epub 2014 Feb 13.

PMID:
24525998
43.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F.

Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23.

44.

Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia.

Caan MW, Barth PG, Niermeijer JM, Majoie CB, Poll-The BT.

Eur J Paediatr Neurol. 2014 May;18(3):434-8. doi: 10.1016/j.ejpn.2013.12.007. Epub 2014 Jan 11.

PMID:
24485946
45.

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.

Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29.

PMID:
24480483
46.

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174.

47.

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

de Roo MGA, Abeling NGGM, Majoie CB, Bosch AM, Koelman JHTM, Cobben JM, Duran M, Poll-The BT.

Mol Genet Metab. 2014 Mar;111(3):404-407. doi: 10.1016/j.ymgme.2013.09.014. Epub 2013 Sep 26.

PMID:
24100244
48.

Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".

Engelen M, Ofman R, Dijkgraaf M, van Geel B, de Visser M, Wanders R, Poll-The BT, Kemp S.

Clin Neurol Neurosurg. 2013 Nov;115(11):2401-2. doi: 10.1016/j.clineuro.2013.07.040. Epub 2013 Aug 22. No abstract available.

PMID:
24018110
49.

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

Berendse K, Ebberink MS, Ijlst L, Poll-The BT, Wanders RJ, Waterham HR.

Orphanet J Rare Dis. 2013 Sep 9;8:138. doi: 10.1186/1750-1172-8-138.

50.

Neurologic abnormalities in HIV-1 infected children in the era of combination antiretroviral therapy.

van Arnhem LA, Bunders MJ, Scherpbier HJ, Majoie CB, Reneman L, Frinking O, Poll-The BT, Kuijpers TW, Pajkrt D.

PLoS One. 2013 May 15;8(5):e64398. doi: 10.1371/journal.pone.0064398. Print 2013.

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