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Items: 50

1.

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model.

Toonen LJA, Overzier M, Evers MM, Leon LG, van der Zeeuw SAJ, Mei H, Kielbasa SM, Goeman JJ, Hettne KM, Magnusson OT, Poirel M, Seyer A, 't Hoen PAC, van Roon-Mom WMC.

Mol Neurodegener. 2018 Jun 22;13(1):31. doi: 10.1186/s13024-018-0261-9.

2.

Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type.

Grand Moursel L, van Roon-Mom WMC, Kiełbasa SM, Mei H, Buermans HPJ, van der Graaf LM, Hettne KM, de Meijer EJ, van Duinen SG, Laros JFJ, van Buchem MA, 't Hoen PAC, van der Maarel SM, van der Weerd L.

Front Aging Neurosci. 2018 Apr 13;10:102. doi: 10.3389/fnagi.2018.00102. eCollection 2018.

3.

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Buijsen RAM, Gardiner SL, Bouma MJ, van der Graaf LM, Boogaard MW, Pepers BA, Eussen B, de Klein A, Freund C, van Roon-Mom WMC.

Stem Cell Res. 2018 May;29:125-128. doi: 10.1016/j.scr.2018.03.018. Epub 2018 Apr 5.

4.

Dose-Dependent Lowering of Mutant Huntingtin Using Antisense Oligonucleotides in Huntington Disease Patients.

van Roon-Mom WMC, Roos RAC, de Bot ST.

Nucleic Acid Ther. 2018 Apr;28(2):59-62. doi: 10.1089/nat.2018.0720. Epub 2018 Mar 13.

PMID:
29620999
5.

Intracerebroventricular Administration of a 2'-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain.

Toonen LJA, Casaca-Carreira J, Pellisé-Tintoré M, Mei H, Temel Y, Jahanshahi A, van Roon-Mom WMC.

Nucleic Acid Ther. 2018 Apr;28(2):63-73. doi: 10.1089/nat.2017.0705. Epub 2018 Mar 22.

6.

Co-expression Patterns between ATN1 and ATXN2 Coincide with Brain Regions Affected in Huntington's Disease.

Keo A, Aziz NA, Dzyubachyk O, van der Grond J, van Roon-Mom WMC, Lelieveldt BPF, Reinders MJT, Mahfouz A.

Front Mol Neurosci. 2017 Nov 30;10:399. doi: 10.3389/fnmol.2017.00399. eCollection 2017.

7.

Huntingtin gene repeat size variations affect risk of lifetime depression.

Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Roos RAC, Comijs HC, Penninx BWJH, van der Mast RC, Aziz NA.

Transl Psychiatry. 2017 Dec 11;7(12):1277. doi: 10.1038/s41398-017-0042-1. Review.

8.

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice.

Toonen LJA, Rigo F, van Attikum H, van Roon-Mom WMC.

Mol Ther Nucleic Acids. 2017 Sep 15;8:232-242. doi: 10.1016/j.omtn.2017.06.019. Epub 2017 Jun 29.

9.

Large normal-range TBP and ATXN7 CAG repeat lengths are associated with increased lifetime risk of depression.

Gardiner SL, van Belzen MJ, Boogaard MW, van Roon-Mom WMC, Rozing MP, van Hemert AM, Smit JH, Beekman ATF, van Grootheest G, Schoevers RA, Oude Voshaar RC, Comijs HC, Penninx BWJH, van der Mast RC, Roos RAC, Aziz NA.

Transl Psychiatry. 2017 Jun 6;7(6):e1143. doi: 10.1038/tp.2017.116.

10.

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.

Schut MH, Patassini S, Kim EH, Bullock J, Waldvogel HJ, Faull RLM, Pepers BA, den Dunnen JT, van Ommen GB, van Roon-Mom WMC.

PLoS One. 2017 Jun 1;12(6):e0178556. doi: 10.1371/journal.pone.0178556. eCollection 2017.

11.

TGFβ pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

Grand Moursel L, Munting LP, van der Graaf LM, van Duinen SG, Goumans MTH, Ueberham U, Natté R, van Buchem MA, van Roon-Mom WMC, van der Weerd L.

Brain Pathol. 2018 Jul;28(4):495-506. doi: 10.1111/bpa.12533. Epub 2017 Jun 12.

PMID:
28557134
12.

Age of onset in Huntington's disease is influenced by CAG repeat variations in other polyglutamine disease-associated genes.

Stuitje G, van Belzen MJ, Gardiner SL, van Roon-Mom WMC, Boogaard MW; REGISTRY Investigators of the European Huntington Disease Network, Tabrizi SJ, Roos RAC, Aziz NA.

Brain. 2017 Jul 1;140(7):e42. doi: 10.1093/brain/awx122. No abstract available.

PMID:
28549075
13.

The dynamics of early-state transcriptional changes and aggregate formation in a Huntington's disease cell model.

van Hagen M, Piebes DGE, de Leeuw WC, Vuist IM, van Roon-Mom WMC, Moerland PD, Verschure PJ.

BMC Genomics. 2017 May 12;18(1):373. doi: 10.1186/s12864-017-3745-z.

14.

Huntington's disease blood and brain show a common gene expression pattern and share an immune signature with Alzheimer's disease.

Hensman Moss DJ, Flower MD, Lo KK, Miller JR, van Ommen GB, 't Hoen PA, Stone TC, Guinee A, Langbehn DR, Jones L, Plagnol V, van Roon-Mom WM, Holmans P, Tabrizi SJ.

Sci Rep. 2017 Mar 21;7:44849. doi: 10.1038/srep44849.

15.

Delivery is key: lessons learnt from developing splice-switching antisense therapies.

Godfrey C, Desviat LR, Smedsrød B, Piétri-Rouxel F, Denti MA, Disterer P, Lorain S, Nogales-Gadea G, Sardone V, Anwar R, El Andaloussi S, Lehto T, Khoo B, Brolin C, van Roon-Mom WM, Goyenvalle A, Aartsma-Rus A, Arechavala-Gomeza V.

EMBO Mol Med. 2017 May;9(5):545-557. doi: 10.15252/emmm.201607199. Review.

16.

Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex.

Maiuri T, Mocle AJ, Hung CL, Xia J, van Roon-Mom WM, Truant R.

Hum Mol Genet. 2017 Jan 15;26(2):395-406. doi: 10.1093/hmg/ddw395.

PMID:
28017939
17.

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3.

Toonen LJ, Schmidt I, Luijsterburg MS, van Attikum H, van Roon-Mom WM.

Sci Rep. 2016 Oct 12;6:35200. doi: 10.1038/srep35200.

18.

In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington's disease.

Casaca-Carreira J, Toonen LJA, Evers MM, Jahanshahi A, van-Roon-Mom WMC, Temel Y.

Biomed Pharmacother. 2016 Dec;84:93-96. doi: 10.1016/j.biopha.2016.09.007. Epub 2016 Sep 16.

PMID:
27639545
19.

Making (anti-) sense out of huntingtin levels in Huntington disease.

Evers MM, Schut MH, Pepers BA, Atalar M, van Belzen MJ, Faull RL, Roos RA, van Roon-Mom WM.

Mol Neurodegener. 2015 Apr 28;10:21. doi: 10.1186/s13024-015-0018-7.

20.

Antisense oligonucleotides in therapy for neurodegenerative disorders.

Evers MM, Toonen LJ, van Roon-Mom WM.

Adv Drug Deliv Rev. 2015 Jun 29;87:90-103. doi: 10.1016/j.addr.2015.03.008. Epub 2015 Mar 20. Review.

21.

Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.

Mastrokolias A, Ariyurek Y, Goeman JJ, van Duijn E, Roos RA, van der Mast RC, van Ommen GB, den Dunnen JT, 't Hoen PA, van Roon-Mom WM.

Eur J Hum Genet. 2015 Oct;23(10):1349-56. doi: 10.1038/ejhg.2014.281. Epub 2015 Jan 28.

22.

Selection and characterization of llama single domain antibodies against N-terminal huntingtin.

Schut MH, Pepers BA, Klooster R, van der Maarel SM, El Khatabi M, Verrips T, den Dunnen JT, van Ommen GJ, van Roon-Mom WM.

Neurol Sci. 2015 Mar;36(3):429-34. doi: 10.1007/s10072-014-1971-6. Epub 2014 Oct 8.

23.

Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.

Kamp JA, Moursel LG, Haan J, Terwindt GM, Lesnik Oberstein SA, van Duinen SG, van Roon-Mom WM.

Rev Neurosci. 2014;25(5):641-51. doi: 10.1515/revneuro-2014-0008. Review.

PMID:
24870607
24.

Underlying molecular mechanisms of DIO2 susceptibility in symptomatic osteoarthritis.

Bomer N, den Hollander W, Ramos YF, Bos SD, van der Breggen R, Lakenberg N, Pepers BA, van Eeden AE, Darvishan A, Tobi EW, Duijnisveld BJ, van den Akker EB, Heijmans BT, van Roon-Mom WM, Verbeek FJ, van Osch GJ, Nelissen RG, Slagboom PE, Meulenbelt I.

Ann Rheum Dis. 2015 Aug;74(8):1571-9. doi: 10.1136/annrheumdis-2013-204739. Epub 2014 Apr 2.

25.

Preventing formation of toxic N-terminal huntingtin fragments through antisense oligonucleotide-mediated protein modification.

Evers MM, Tran HD, Zalachoras I, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.

Nucleic Acid Ther. 2014 Feb;24(1):4-12. doi: 10.1089/nat.2013.0452. Epub 2013 Dec 31.

PMID:
24380395
26.

Ataxin-3 protein and RNA toxicity in spinocerebellar ataxia type 3: current insights and emerging therapeutic strategies.

Evers MM, Toonen LJ, van Roon-Mom WM.

Mol Neurobiol. 2014 Jun;49(3):1513-31. doi: 10.1007/s12035-013-8596-2. Epub 2013 Nov 29. Review.

27.

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: removal of the CAG containing exon.

Evers MM, Tran HD, Zalachoras I, Pepers BA, Meijer OC, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, van Roon-Mom WM.

Neurobiol Dis. 2013 Oct;58:49-56. doi: 10.1016/j.nbd.2013.04.019. Epub 2013 May 6.

28.

Changes in brainstem serotonergic and dopaminergic cell populations in experimental and clinical Huntington's disease.

Jahanshahi A, Vlamings R, van Roon-Mom WM, Faull RL, Waldvogel HJ, Janssen ML, Yakkioui Y, Zeef DH, Kocabicak E, Steinbusch HW, Temel Y.

Neuroscience. 2013 May 15;238:71-81. doi: 10.1016/j.neuroscience.2013.01.071. Epub 2013 Feb 9.

PMID:
23403175
29.

Antisense-mediated isoform switching of steroid receptor coactivator-1 in the central nucleus of the amygdala of the mouse brain.

Zalachoras I, Grootaers G, van Weert LT, Aubert Y, de Kreij SR, Datson NA, van Roon-Mom WM, Aartsma-Rus A, Meijer OC.

BMC Neurosci. 2013 Jan 7;14:5. doi: 10.1186/1471-2202-14-5.

30.

Exploring the transcriptome of ciliated cells using in silico dissection of human tissues.

Ivliev AE, 't Hoen PA, van Roon-Mom WM, Peters DJ, Sergeeva MG.

PLoS One. 2012;7(4):e35618. doi: 10.1371/journal.pone.0035618. Epub 2012 Apr 25.

31.

Elevated brain iron is independent from atrophy in Huntington's Disease.

Dumas EM, Versluis MJ, van den Bogaard SJ, van Osch MJ, Hart EP, van Roon-Mom WM, van Buchem MA, Webb AG, van der Grond J, Roos RA; TRACK-HD investigators.

Neuroimage. 2012 Jul 2;61(3):558-64. doi: 10.1016/j.neuroimage.2012.03.056. Epub 2012 Mar 28.

PMID:
22480728
32.

Overview on applications of antisense-mediated exon skipping.

van Roon-Mom WM, Aartsma-Rus A.

Methods Mol Biol. 2012;867:79-96. doi: 10.1007/978-1-61779-767-5_6. Review.

PMID:
22454056
33.

Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNA.

Mastrokolias A, den Dunnen JT, van Ommen GB, 't Hoen PA, van Roon-Mom WM.

BMC Genomics. 2012 Jan 18;13:28. doi: 10.1186/1471-2164-13-28.

34.

CAG repeat size in the normal HTT allele and age of onset in Huntington's disease.

Aziz NA, van Roon-Mom WM, Roos RA.

Mov Disord. 2011 Nov;26(13):2450-1; author reply 2451. doi: 10.1002/mds.23849. No abstract available.

PMID:
22109852
35.

Targeting several CAG expansion diseases by a single antisense oligonucleotide.

Evers MM, Pepers BA, van Deutekom JC, Mulders SA, den Dunnen JT, Aartsma-Rus A, van Ommen GJ, van Roon-Mom WM.

PLoS One. 2011;6(9):e24308. doi: 10.1371/journal.pone.0024308. Epub 2011 Sep 1.

36.

Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain.

Zalachoras I, Evers MM, van Roon-Mom WM, Aartsma-Rus AM, Meijer OC.

Front Mol Neurosci. 2011 Jul 19;4:10. doi: 10.3389/fnmol.2011.00010. eCollection 2011.

37.

In silico discovery and experimental validation of new protein-protein interactions.

van Haagen HH, 't Hoen PA, de Morrée A, van Roon-Mom WM, Peters DJ, Roos M, Mons B, van Ommen GJ, Schuemie MJ.

Proteomics. 2011 Mar;11(5):843-53. doi: 10.1002/pmic.201000398. Epub 2011 Jan 31.

PMID:
21280221
38.

Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease.

Aziz NA, Jurgens CK, Landwehrmeyer GB; EHDN Registry Study Group, van Roon-Mom WM, van Ommen GJ, Stijnen T, Roos RA.

Neurology. 2009 Oct 20;73(16):1280-5. doi: 10.1212/WNL.0b013e3181bd1121. Epub 2009 Sep 23. Erratum in: Neurology. 2009 Nov 10;73(19):1608. Neurology. 2011 Jan 11;76(2):202. Ciarmielo, Andrea [corrected to Ciarmiello, Andrea].

PMID:
19776381
39.

Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selection.

Pepers BA, Schut MH, Vossen RH, van Ommen GJ, den Dunnen JT, van Roon-Mom WM.

BMC Biotechnol. 2009 May 22;9:50. doi: 10.1186/1472-6750-9-50.

40.

Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease.

van Roon-Mom WM, Pepers BA, 't Hoen PA, Verwijmeren CA, den Dunnen JT, Dorsman JC, van Ommen GB.

BMC Mol Biol. 2008 Oct 9;9:84. doi: 10.1186/1471-2199-9-84.

41.

The collection and processing of human brain tissue for research.

Waldvogel HJ, Bullock JY, Synek BJ, Curtis MA, van Roon-Mom WM, Faull RL.

Cell Tissue Bank. 2008 Sep;9(3):169-79. doi: 10.1007/s10561-008-9068-1. Epub 2008 Mar 21.

PMID:
18357514
42.

Human neuroblasts migrate to the olfactory bulb via a lateral ventricular extension.

Curtis MA, Kam M, Nannmark U, Anderson MF, Axell MZ, Wikkelso C, Holtås S, van Roon-Mom WM, Björk-Eriksson T, Nordborg C, Frisén J, Dragunow M, Faull RL, Eriksson PS.

Science. 2007 Mar 2;315(5816):1243-9. Epub 2007 Feb 15.

43.

Aggregate distribution in frontal and motor cortex in Huntington's disease brain.

van Roon-Mom WM, Hogg VM, Tippett LJ, Faull RL.

Neuroreport. 2006 Apr 24;17(6):667-70.

PMID:
16603932
44.

TATA-binding protein in neurodegenerative disease.

van Roon-Mom WM, Reid SJ, Faull RL, Snell RG.

Neuroscience. 2005;133(4):863-72. Review.

PMID:
15916858
45.

TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

Reid SJ, van Roon-Mom WM, Wood PC, Rees MI, Owen MJ, Faull RL, Dragunow M, Snell RG.

Brain Res Mol Brain Res. 2004 Jun 18;125(1-2):120-8.

PMID:
15193429
46.

Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain.

Curtis MA, Penney EB, Pearson AG, van Roon-Mom WM, Butterworth NJ, Dragunow M, Connor B, Faull RL.

Proc Natl Acad Sci U S A. 2003 Jul 22;100(15):9023-7. Epub 2003 Jul 9.

47.

Molecular investigation of TBP allele length: a SCA17 cellular model and population study.

Reid SJ, Rees MI, van Roon-Mom WM, Jones AL, MacDonald ME, Sutherland G, During MJ, Faull RL, Owen MJ, Dragunow M, Snell RG.

Neurobiol Dis. 2003 Jun;13(1):37-45.

PMID:
12758065
48.

Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

van Roon-Mom WM, Reid SJ, Jones AL, MacDonald ME, Faull RL, Snell RG.

Brain Res Mol Brain Res. 2002 Dec 30;109(1-2):1-10.

PMID:
12531510
49.

Stem cells and neurodegenerative diseases.

Connor B, van Roon-Mom WM, Curtis MA, Dragunow M, Faull RL.

N Z Med J. 2001 Oct 26;114(1142):477-9. No abstract available.

PMID:
11760244
50.

The IGF-I amino-terminal tripeptide glycine-proline-glutamate (GPE) is neuroprotective to striatum in the quinolinic acid lesion animal model of Huntington's disease.

Alexi T, Hughes PE, van Roon-Mom WM, Faull RL, Williams CE, Clark RG, Gluckman PD.

Exp Neurol. 1999 Sep;159(1):84-97.

PMID:
10486177

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