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Items: 13

1.

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.

2.

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.

3.

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
4.

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.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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.

10.

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. 2017 May 29. doi: 10.1111/bpa.12533. [Epub ahead of print]

PMID:
28557134
11.

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
12.

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.

13.

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

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