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Items: 1 to 50 of 168

1.

Deacetylation Inhibition Reverses PABPN1-Dependent Muscle Wasting.

Olie CS, Riaz M, Konietzny R, Charles PD, Pinto-Fernandez A, Kiełbasa SM, Aartsma-Rus A, Goeman JJ, Kessler BM, Raz V.

iScience. 2019 Jan 22;12:318-332. doi: 10.1016/j.isci.2019.01.024. [Epub ahead of print]

2.

Nonclinical Exon Skipping Studies with 2'-O-Methyl Phosphorothioate Antisense Oligonucleotides in mdx and mdx-utrn-/- Mice Inspired by Clinical Trial Results.

van Putten M, Tanganyika-de Winter C, Bosgra S, Aartsma-Rus A.

Nucleic Acid Ther. 2019 Jan 23. doi: 10.1089/nat.2018.0759. [Epub ahead of print]

PMID:
30672725
3.

Serum Neurofilament light correlates with CADASIL disease severity and survival.

Gravesteijn G, Rutten JW, Verberk IMW, Böhringer S, Liem MK, van der Grond J, Aartsma-Rus A, Teunissen CE, Lesnik Oberstein SAJ.

Ann Clin Transl Neurol. 2018 Nov 20;6(1):46-56. doi: 10.1002/acn3.678. eCollection 2019 Jan.

4.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.

Aartsma-Rus A, Morgan J, Lonkar P, Neubert H, Owens J, Binks M, Montolio M, Phadke R, Datson N, Van Deutekom J, Morris GE, Rao VA, Hoffman EP, Muntoni F, Arechavala-Gomeza V; workshop participants.

J Neuromuscul Dis. 2019;6(1):147-159. doi: 10.3233/JND-180357.

PMID:
30614809
5.

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.

Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF.

J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. No abstract available.

6.

A Sequel to the Eteplirsen Saga: Eteplirsen Is Approved in the United States but Was Not Approved in Europe.

Aartsma-Rus A, Goemans N.

Nucleic Acid Ther. 2019 Feb;29(1):13-15. doi: 10.1089/nat.2018.0756. Epub 2018 Dec 11.

PMID:
30526286
7.

Voluntary exercise improves muscle function and does not exacerbate muscle and heart pathology in aged Duchenne muscular dystrophy mice.

Kogelman B, Putker K, Hulsker M, Tanganyika-de Winter C, van der Weerd L, Aartsma-Rus A, van Putten M.

J Mol Cell Cardiol. 2018 Dec;125:29-38. doi: 10.1016/j.yjmcc.2018.10.008. Epub 2018 Oct 16.

8.

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.

Hiller M, Falzarano MS, Garcia-Jimenez I, Sardone V, Verheul RC, Popplewell L, Anthony K, Ruiz-Del-Yerro E, Osman H, Goeman JJ, Mamchaoui K, Dickson G, Ferlini A, Muntoni F, Aartsma-Rus A, Arechavala-Gomeza V, Datson NA, Spitali P.

PLoS One. 2018 Oct 2;13(10):e0204485. doi: 10.1371/journal.pone.0204485. eCollection 2018.

9.

"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic.

Gordish-Dressman H, Willmann R, Dalle Pazze L, Kreibich A, van Putten M, Heydemann A, Bogdanik L, Lutz C, Davies K, Demonbruen AR, Duan D, Elsey D, Fukada SI, Girgenrath M, Patrick Gonzalez J, Grounds MD, Nichols A, Partridge T, Passini M, Sanarica F, Schnell FJ, Wells DJ, Yokota T, Young CS, Zhong Z, Spurney C, Spencer M, De Luca A, Nagaraju K, Aartsma-Rus A.

J Neuromuscul Dis. 2018;5(4):407-417. doi: 10.3233/JND-180324.

10.

Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice.

Hiller M, Spitali P, Datson N, Aartsma-Rus A.

Methods Mol Biol. 2018;1828:249-262. doi: 10.1007/978-1-4939-8651-4_15.

PMID:
30171546
11.

Why dystrophin quantification is key in the eteplirsen saga.

Aartsma-Rus A, Arechavala-Gomeza V.

Nat Rev Neurol. 2018 Aug;14(8):454-456. doi: 10.1038/s41582-018-0033-8. No abstract available.

PMID:
29967362
13.

Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.

Pasteuning-Vuhman S, Putker K, Tanganyika-de Winter CL, Boertje-van der Meulen JW, van Vliet L, Overzier M, Plomp JJ, Aartsma-Rus A, van Putten M.

PLoS One. 2018 May 15;13(5):e0197388. doi: 10.1371/journal.pone.0197388. eCollection 2018.

14.

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies.

Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A.

J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. doi: 10.1002/jcsm.12304. Epub 2018 Apr 16.

15.

Low dystrophin levels are insufficient to normalize the neuromuscular synaptic abnormalities of mdx mice.

van der Pijl EM, van Putten M, Niks EH, Verschuuren JJGM, Aartsma-Rus A, Plomp JJ.

Neuromuscul Disord. 2018 May;28(5):427-442. doi: 10.1016/j.nmd.2018.02.013. Epub 2018 Mar 6.

16.

Measuring DNA hybridization using fluorescent DNA-stabilized silver clusters to investigate mismatch effects on therapeutic oligonucleotides.

de Bruin D, Bossert N, Aartsma-Rus A, Bouwmeester D.

J Nanobiotechnology. 2018 Apr 6;16(1):37. doi: 10.1186/s12951-018-0361-2.

17.

Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy.

Kogelman B, Khmelinskii A, Verhaart I, Vliet LV, Bink DI, Aartsma-Rus A, Putten MV, Weerd LV.

PLoS One. 2018 Mar 30;13(3):e0194636. doi: 10.1371/journal.pone.0194636. eCollection 2018.

18.

Author Correction: Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy.

Doorenweerd N, Mahfouz A, van Putten M, Kaliyaperumal R, T' Hoen PAC, Hendriksen JGM, Aartsma-Rus AM, Verschuuren JJGM, Niks EH, Reinders MJT, Kan HE, Lelieveldt BPF.

Sci Rep. 2018 Mar 1;8(1):4058. doi: 10.1038/s41598-018-22154-7.

19.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

20.

Update on Standard Operating Procedures in Preclinical Research for DMD and SMA Report of TREAT-NMD Alliance Workshop, Schiphol Airport, 26 April 2015, The Netherlands.

van Putten M, Aartsma-Rus A, Grounds MD, Kornegay JN, Mayhew A, Gillingwater TH, Takeda S, Rüegg MA, De Luca A, Nagaraju K, Willmann R.

J Neuromuscul Dis. 2018;5(1):29-34. doi: 10.3233/JND-170288.

21.

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides.

Veltrop M, van Vliet L, Hulsker M, Claassens J, Brouwers C, Breukel C, van der Kaa J, Linssen MM, den Dunnen JT, Verbeek S, Aartsma-Rus A, van Putten M.

PLoS One. 2018 Feb 21;13(2):e0193289. doi: 10.1371/journal.pone.0193289. eCollection 2018.

22.

Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.

Spitali P, Hettne K, Tsonaka R, Sabir E, Seyer A, Hemerik JBA, Goeman JJ, Picillo E, Ergoli M, Politano L, Aartsma-Rus A.

J Cell Mol Med. 2018 Apr;22(4):2442-2448. doi: 10.1111/jcmm.13543. Epub 2018 Feb 14.

23.

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P.

Sci Rep. 2017 Dec 20;7(1):17888. doi: 10.1038/s41598-017-17982-y.

24.

Genetic therapies for spinal muscular atrophy type 1.

Aartsma-Rus A.

Lancet Neurol. 2018 Feb;17(2):111-112. doi: 10.1016/S1474-4422(17)30436-2. Epub 2017 Dec 8. No abstract available.

PMID:
29229374
25.

226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands.

Aartsma-Rus A, Ferlini A, McNally EM, Spitali P, Sweeney HL; workshop participants.

Neuromuscul Disord. 2018 Jan;28(1):77-86. doi: 10.1016/j.nmd.2017.10.002. Epub 2017 Oct 26. No abstract available.

26.

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

Badrising UA, Tsonaka R, Hiller M, Niks EH, Evangelista T, Lochmüller H, Verschuuren JJ, Aartsma-Rus A, Spitali P.

J Neuromuscul Dis. 2017;4(4):327-335. doi: 10.3233/JND-170234.

PMID:
29172005
27.

Cyclic Peptides to Improve Delivery and Exon Skipping of Antisense Oligonucleotides in a Mouse Model for Duchenne Muscular Dystrophy.

Jirka SMG, 't Hoen PAC, Diaz Parillas V, Tanganyika-de Winter CL, Verheul RC, Aguilera B, de Visser PC, Aartsma-Rus AM.

Mol Ther. 2018 Jan 3;26(1):132-147. doi: 10.1016/j.ymthe.2017.10.004. Epub 2017 Oct 12.

28.

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy.

Doorenweerd N, Mahfouz A, van Putten M, Kaliyaperumal R, T' Hoen PAC, Hendriksen JGM, Aartsma-Rus AM, Verschuuren JJGM, Niks EH, Reinders MJT, Kan HE, Lelieveldt BPF.

Sci Rep. 2017 Oct 3;7(1):12575. doi: 10.1038/s41598-017-12981-5. Erratum in: Sci Rep. 2018 Mar 1;8(1):4058.

29.

Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F.

Pasteuning-Vuhman S, Putker K, Tanganyika-de Winter CL, Boertje-van der Meulen JW, van Vliet L, Overzier M, Plomp JJ, Aartsma-Rus A, van Putten M.

PLoS One. 2017 Aug 10;12(8):e0182704. doi: 10.1371/journal.pone.0182704. eCollection 2017.

30.

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

Aartsma-Rus A, Straub V, Hemmings R, Haas M, Schlosser-Weber G, Stoyanova-Beninska V, Mercuri E, Muntoni F, Sepodes B, Vroom E, Balabanov P.

Nucleic Acid Ther. 2017 Oct;27(5):251-259. doi: 10.1089/nat.2017.0682. Epub 2017 Aug 10. Review.

31.

Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD).

Leary R, Oyewole AO, Bushby K, Aartsma-Rus A.

Neuropediatrics. 2017 Aug;48(4):211-220. doi: 10.1055/s-0037-1604110. Epub 2017 Jul 6. Review. No abstract available.

PMID:
28683502
32.

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller H.

Orphanet J Rare Dis. 2017 Jul 4;12(1):124. doi: 10.1186/s13023-017-0671-8. Review.

33.

FDA Approval of Nusinersen for Spinal Muscular Atrophy Makes 2016 the Year of Splice Modulating Oligonucleotides.

Aartsma-Rus A.

Nucleic Acid Ther. 2017 Apr;27(2):67-69. doi: 10.1089/nat.2017.0665. Epub 2017 Feb 21. No abstract available.

PMID:
28346110
34.

Stakeholder collaboration for spinal muscular atrophy therapy development.

Aartsma-Rus A, Balabanov P, Binetti L, Haas M, Haberkamp M, Mitchell J, Rosa MM, Muntoni F, Finkel R, Mercuri E.

Lancet Neurol. 2017 Apr;16(4):264. doi: 10.1016/S1474-4422(17)30041-8. No abstract available. Erratum in: Lancet Neurol. 2017 May;16(5):341.

PMID:
28327335
35.

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.

36.

Mimicking Cardiac Fibrosis in a Dish: Fibroblast Density Rather than Collagen Density Weakens Cardiomyocyte Function.

van Spreeuwel ACC, Bax NAM, van Nierop BJ, Aartsma-Rus A, Goumans MTH, Bouten CVC.

J Cardiovasc Transl Res. 2017 Apr;10(2):116-127. doi: 10.1007/s12265-017-9737-1. Epub 2017 Mar 9.

37.

Exon skipping: a first in class strategy for Duchenne muscular dystrophy.

Niks EH, Aartsma-Rus A.

Expert Opin Biol Ther. 2017 Feb;17(2):225-236. doi: 10.1080/14712598.2017.1271872. Epub 2016 Dec 23. Review.

PMID:
27936976
38.

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga.

Aartsma-Rus A, Krieg AM.

Nucleic Acid Ther. 2017 Feb;27(1):1-3. doi: 10.1089/nat.2016.0657. Epub 2016 Dec 8. No abstract available.

39.

Accurate Dystrophin Quantification in Mouse Tissue; Identification of New and Evaluation of Existing Methods.

Hulsker M, Verhaart I, van Vliet L, Aartsma-Rus A, van Putten M.

J Neuromuscul Dis. 2016 Mar 3;3(1):77-90.

PMID:
27854205
40.

Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa.

Bremer J, Bornert O, Nyström A, Gostynski A, Jonkman MF, Aartsma-Rus A, van den Akker PC, Pasmooij AM.

Mol Ther Nucleic Acids. 2016 Oct 18;5(10):e379. doi: 10.1038/mtna.2016.87.

41.

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project, Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group.

Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13.

42.

New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration.

Pasteuning-Vuhman S, Boertje-van der Meulen JW, van Putten M, Overzier M, Ten Dijke P, Kiełbasa SM, Arindrarto W, Wolterbeek R, Lezhnina KV, Ozerov IV, Aliper AM, Hoogaars WM, Aartsma-Rus A, Loomans CJ.

FASEB J. 2017 Jan;31(1):238-255. doi: 10.1096/fj.201600675R. Epub 2016 Oct 12.

43.

Environmental 24-hr Cycles Are Essential for Health.

Lucassen EA, Coomans CP, van Putten M, de Kreij SR, van Genugten JH, Sutorius RP, de Rooij KE, van der Velde M, Verhoeve SL, Smit JW, Löwik CW, Smits HH, Guigas B, Aartsma-Rus AM, Meijer JH.

Curr Biol. 2016 Jul 25;26(14):1843-53. doi: 10.1016/j.cub.2016.05.038. Epub 2016 Jul 14.

44.

RNA-based therapies for genodermatoses.

Bornert O, Peking P, Bremer J, Koller U, van den Akker PC, Aartsma-Rus A, Pasmooij AM, Murauer EM, Nyström A.

Exp Dermatol. 2017 Jan;26(1):3-10. doi: 10.1111/exd.13141. Review.

45.

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, Pereda A, Hemmings R, Campion G, Kaye E, Arechavala-Gomeza V, Goyenvalle A, Niks E, Veldhuizen O, Furlong P, Stoyanova-Beninska V, Wood MJ, Johnson A, Mercuri E, Muntoni F, Sepodes B, Haas M, Vroom E, Aartsma-Rus A.

Lancet Neurol. 2016 Jul;15(8):882-890. doi: 10.1016/S1474-4422(16)30035-7. Review.

PMID:
27302365
46.

Cognitive flexibility deficits in a mouse model for the absence of full-length dystrophin.

Remmelink E, Aartsma-Rus A, Smit AB, Verhage M, Loos M, van Putten M.

Genes Brain Behav. 2016 Jul;15(6):558-67. doi: 10.1111/gbb.12301.

47.

Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models.

van der Pijl EM, van Putten M, Niks EH, Verschuuren JJ, Aartsma-Rus A, Plomp JJ.

Eur J Neurosci. 2016 Jun;43(12):1623-35. doi: 10.1111/ejn.13249. Epub 2016 May 9.

PMID:
27037492
48.

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Rutten JW, Dauwerse HG, Peters DJ, Goldfarb A, Venselaar H, Haffner C, van Ommen GJ, Aartsma-Rus AM, Lesnik Oberstein SA.

Brain. 2016 Apr;139(Pt 4):1123-35. doi: 10.1093/brain/aww011. Epub 2016 Feb 19.

PMID:
26912635
49.

New Momentum for the Field of Oligonucleotide Therapeutics.

Aartsma-Rus A.

Mol Ther. 2016 Feb;24(2):193-194. doi: 10.1038/mt.2016.14. No abstract available.

50.

The importance of genetic diagnosis for Duchenne muscular dystrophy.

Aartsma-Rus A, Ginjaar IB, Bushby K.

J Med Genet. 2016 Mar;53(3):145-51. doi: 10.1136/jmedgenet-2015-103387. Epub 2016 Jan 11. Review.

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