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Items: 1 to 20 of 155

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 Feb 22;12:318-332. doi: 10.1016/j.isci.2019.01.024. Epub 2019 Jan 22.

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.

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.

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.

19.

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.

20.

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.

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