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1

Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

Annemieke Aartsma-Rus, Judith C. T. Van Deutekom, Ivo F. Fokkema, Gert-Jan B. Van Ommen, Johan T. Den Dunnen

Journal:

Year:

2006

Language:

english

File:

PDF, 810 KB

english, 2006

2

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Annemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, Ieke Ginjaar, Judith van Deutekom, Gert-Jan van Ommen, Johan T. den Dunnen

Journal:

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

3

Therapeutic Modulation of DMD Splicing by Blocking Exonic Splicing Enhancer Sites with Antisense Oligonucleotides

A. AARTSMA-RUS, A.A.M. JANSON, J.A. HEEMSKERK, C.L. DE WINTER, G.-J.B. VAN OMMEN, J.C.T. VAN DEUTEKOM

Journal:

Annals of the New York Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

4

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Mattie Bremmer-Bout, Anneke A.M Janson, Johan T den Dunnen, Gert-Jan B van Ommen, Judith C.T van Deutekom

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

5

Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases

Veltrop, Marcel, Aartsma-Rus, Annemieke

Journal:

Experimental Cell Research

Year:

2014

Language:

english

File:

PDF, 509 KB

english, 2014

6

Preclinical PK and PD Studies on 2′-O-Methyl-phosphorothioate RNA Antisense Oligonucleotides in the mdx Mouse Model

Heemskerk, Hans, de Winter, Christa, van Kuik, Petra, Heuvelmans, Niki, Sabatelli, Patrizia, Rimessi, Paola, Braghetta, Paola, van Ommen, Gert-Jan B, de Kimpe, Sjef, Ferlini, Alessandra, Aartsma-Rus,

Journal:

Molecular Therapy

Year:

2010

Language:

english

File:

PDF, 481 KB

english, 2010

7

Functional Analysis of 114 Exon-Internal AONs for Targeted DMD Exon Skipping: Indication for Steric Hindrance of SR Protein Binding Sites

Aartsma-rus, Annemieke, De winter, Christa L., Janson, Anneke A.M., Kaman, Wendy E., Van ommen, Gert-jan B., Den dunnen, Johan T., Van deutekom, Judith C.T.

Journal:

Oligonucleotides

Year:

2005

Language:

english

File:

PDF, 181 KB

english, 2005

8

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, Maaike, Aartsma-Rus, Annemieke, Grounds, Miranda D., Kornegay, Joe N., Mayhew, Anna, Gillingwater, Thomas H., Takeda, Shin’ichi, Rüegg, Markus A., De Luca, Annamaria, Nagaraju, Kanneboyina

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 59 KB

english, 2018

9

Duplications in the DMD gene

S.J. White, A. Aartsma-Rus, K.M. Flanigan, R.B. Weiss, A.L.J. Kneppers, T. Lalic, A.A.M. Janson, H.B. Ginjaar, M.H. Breuning, J.T. den Dunnen

Journal:

Year:

2006

Language:

english

File:

PDF, 212 KB

english, 2006

10

Development of Antisense-Mediated Exon Skipping as a Treatment for Duchenne Muscular Dystrophy

Hans Heemskerk, Christa L. de Winter, Gert-Jan B. van Ommen, Judith C.T. van Deutekom, Annemieke Aartsma-Rus

Journal:

Annals of the New York Academy of Sciences

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009

11

Current Status of Pharmaceutical and Genetic Therapeutic Approaches to Treat DMD

Pichavant, Christophe, Aartsma-Rus, Annemieke, Clemens, Paula R, Davies, Kay E, Dickson, George, Takeda, Shin'ichi, Wilton, Steve D, Wolff, Jon A, Wooddell, Christine I, Xiao, Xiao, Tremblay, Jacques

Journal:

Molecular Therapy

Year:

2011

Language:

english

File:

PDF, 470 KB

english, 2011

12

Meeting report of the “regulatory exchange matters” session at the 5th international TREAT-NMD conference. lessons in communication. how an early dialogue between patients, regulators and academics can further therapy development for neuromuscular disorders.

Aartsma-Rus, Annemieke, Mercuri, Eugenio, Vroom, Elizabeth, Balabanov, Pavel

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 843 KB

english, 2018

13

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

de Bruin, Donny, Bossert, Nelli, Aartsma-Rus, Annemieke, Bouwmeester, Dirk

Journal:

Journal of Nanobiotechnology

Year:

2018

Language:

english

File:

PDF, 996 KB

english, 2018

14

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

Verhaart, Ingrid E. C., Robertson, Agata, Wilson, Ian J., Aartsma-Rus, Annemieke, Cameron, Shona, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 535 KB

english, 2017

15

Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy

Hellebrekers, Danique M.J., Doorenweerd, Nathalie, Sweere, Dirk J.J., van Kuijk, Sander M.J., Aartsma-Rus, Annemieke M., Klinkenberg, Sylvia, Vles, Johan S.H., Hendriksen, Jos G.M.

Journal:

European Journal of Paediatric Neurology

Year:

2020

Language:

english

File:

PDF, 836 KB

english, 2020

16

Developments in reading frame restoring therapy approaches for Duchenne muscular dystrophy

Schneider, Anne-Fleur E., Aartsma-Rus, Annemieke

Journal:

Expert Opinion on Biological Therapy

Year:

2020

File:

PDF, 1.25 MB

2020

17

In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping

Hans A. Heemskerk, Christa L. de Winter, Sjef J. de Kimpe, Petra van Kuik-Romeijn, Niki Heuvelmans, Gerard J. Platenburg, Gert-Jan B. van Ommen, Judith C. T. van Deutekom, Annemieke Aartsma-Rus

Journal:

The Journal of Gene Medicine

Year:

2009

Language:

english

File:

PDF, 409 KB

english, 2009

18

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Anneke AM Janson, Gert-Jan B van Ommen, Judith CT van Deutekom

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.29 MB

english, 2007

19

Assessment of the feasibility of exon 45–55 multiexon skipping for duchenne muscular dystrophy

Laura van Vliet, Christa L de Winter, Judith CT van Deutekom, Gert-Jan B van Ommen, Annemieke Aartsma-Rus

Journal:

BMC Medical Genetics

Year:

2008

Language:

english

File:

PDF, 872 KB

english, 2008

20

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy

Dwi U Kemaladewi, Willem MH Hoogaars, Sandra H van Heiningen, Samuel Terlouw, David JJ de Gorter, Johan T den Dunnen, Gert Jan B van Ommen, Annemieke Aartsma-Rus, Peter ten Dijke, Peter AC’t Hoen

Journal:

BMC Medical Genomics

Year:

2011

Language:

english

File:

PDF, 1.18 MB

english, 2011

21

RNA-based therapeutics reaching the clinic

G.J. van Ommen, A. Aartsma-Rus, P-Bram ’t Hoen, J. Verschuuren, J. van Deutekom

Journal:

New Biotechnology

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

22

New insights in gene-derived therapy: the example of Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Johan T. den Dunnen, Gert-Jan B van Ommen

Journal:

Annals of the New York Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 277 KB

english, 2010

23

Progress in therapeutic antisense applications for neuromuscular disorders

Aartsma-Rus, Annemieke, van Ommen, Gert-Jan B

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 510 KB

english, 2009

24

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus, Annemieke, Singh, Kavita HK, Fokkema, Ivo FAC, Ginjaar, Ieke B, van Ommen, Gert-Jan, den Dunnen, Johan T, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

25

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus, Annemieke, Singh, Kavita H K, Fokkema, Ivo F A C, Ginjaar, Ieke B, van Ommen, Gert-Jan, Dunnen, Johan T den, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 413 KB

english, 2010

26

Reply to Lévy et al

Aartsma-Rus, Annemieke, van der Maarel, Silvère

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 76 KB

english, 2010

27

Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy

Spitali, Pietro, Heemskerk, Hans, Vossen, Rolf HAM, Ferlini, Alessandra, den Dunnen, Johan T, 't Hoen, Peter AC, Aartsma-Rus, Annemieke

Journal:

Laboratory Investigation

Year:

2010

Language:

english

File:

PDF, 292 KB

english, 2010

28

Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

Aartsma-Rus, A, Kaman, W E, Bremmer-Bout, M, Janson, A A M, den Dunnen, J T, van Ommen, G-J B, van Deutekom, J C T

Journal:

Year:

2004

Language:

english

File:

PDF, 247 KB

english, 2004

29

[Methods in Molecular Biology] Exon Skipping Volume 867 || Dynamic Fluorescent and Luminescent Reporters for Cell-Based Splicing Screens

Aartsma-Rus, Annemieke

Year:

2012

Language:

english

File:

PDF, 489 KB

english, 2012

30

Phage display screening without repetitious selection rounds

Peter A.C. ’t Hoen, Silvana M.G. Jirka, Bradley R. ten Broeke, Erik A. Schultes, Begoña Aguilera, Kar Him Pang, Hans Heemskerk, Annemieke Aartsma-Rus, Gertjan J. van Ommen, Johan T. den Dunnen

Journal:

Analytical Biochemistry

Year:

2012

Language:

english

File:

PDF, 1009 KB

english, 2012

31

Muscle binding peptides found by phage display as delivery agent for antisense oligonucleotides

H. Heemskerk, B. Aguilera, A. Janson, K.H. Pang, G.-J. van Ommen, J. van Deutekom, A. Aartsma-Rus

Journal:

Journal of Controlled Release

Year:

2008

Language:

english

File:

PDF, 750 KB

english, 2008

32

BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model

SongTing Shi, Willem M.H. Hoogaars, David J.J. de Gorter, Sandra H. van Heiningen, Herbert Y. Lin, Charles C. Hong, Dwi U. Kemaladewi, Annemieke Aartsma-Rus, Peter ten Dijke, Peter A.C. 't Hoen

Journal:

Neurobiology of Disease

Year:

2011

Language:

english

File:

PDF, 1.28 MB

english, 2011

33

Less is more: therapeutic exon skipping for Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Gert-Jan B van Ommen

Journal:

The Lancet Neurology

Year:

2009

Language:

english

File:

PDF, 63 KB

english, 2009

34

[Methods in Molecular Biology] Exon Skipping Volume 867 || Exon Skipping Quantification by Real-Time PCR

Aartsma-Rus, Annemieke

Year:

2012

Language:

english

File:

PDF, 414 KB

english, 2012

35

[Methods in Molecular Biology] Exon Skipping Volume 867 || U1 snRNA as an Effective Vector for Stable Expression of Antisense Molecules and for the Inhibition of the Splicing Reaction

Aartsma-Rus, Annemieke

Year:

2012

Language:

english

File:

PDF, 357 KB

english, 2012

36

Splice Modulating Therapies for Human Disease

Pietro Spitali, Annemieke Aartsma-Rus

Journal:

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

37

T.P.1 03 Gene expression profiling to monitor therapeutic and adverse effects of antisense-induced exon skipping for Duchenne muscular dystrophy

P.A.C. ’t Hoen, C.G.C. van der Wees, A. Aartsma-Rus, R. Turk, A. Goyenvalle, O. Danos, L. Garcia, G.J.B. van Ommen, J.C.T. van Deutekom, J.T. den Dunnen

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

38

T.P.1 05 Antisense oligonucleotide design for therapeutic antisense-mediated exon skipping for Duchenne muscular dystrophy

A. Aartsma-Rus, C.L. de Winter, W.E. Kaman, A.A.M. Janson, J.C.T. van Deutekom

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

39

G.P.6 07 An overview of mutations reported in the Leiden DMD mutation database that appear not to follow the reading frame rule

A. Aartsma-Rus, J.C.T. van Deutekom, I.F. Fokkema, J.T. den Dunnen

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

40

T.O. 1 Antisense-induced exon skipping in Duchenne muscular dystrophy patients

A.A.M. Janson, I.H.B. Ginjaar, A. Aartsma-Rus, G.-J.B. van Ommen, A. van der Kooi, S. de Kimpe, P. Ekhart, G. Platenburg, J.J.G.M. Verschuuren, J.C.T. van Deutekom

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

41

T.P.2.05 Direct comparison of 2′O-methyl and PMO AONs for exon skipping in preclinical model in DMD

H.A. Heemskerk, C.L. de Winter, S.J. de Kimpe, P. van Kuik-Romeijn, N. Heuvelmans, G.J. Platenburg, G.J.B. van Ommen, J.C.T. van Deutekom, A. Aartsma-Rus

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 49 KB

english, 2008

42

G.P.8.01 Functional muscle, histological and biomarker analysis in the mdx mouse

M. van Putten, C.L. de Winter, J.C.T. van Deutekom, G.J.B. van Ommen, A. Aartsma-Rus

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 62 KB

english, 2008

43

T.P.2.04 Optimization of antisense-mediated exon skipping in mouse models for Duchenne muscular dystrophy

A. Aartsma-Rus, H.A. Heemskerk, C.L. de Winter, M. van Putten, S. De Kimpe, J.C.T. van Deutekom, G.J.B. van Ommen

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 49 KB

english, 2008

44

G.P.12.01 Epidemiology of the dystrophinopathies in the Netherlands

J.C. van den Bergen, C.S.M. Straathof, R.F. Pangalila, R. Broekgaarden, W.C.G. Overweg-Plandsoen, A.M. Aartsma-Rus, H.B. Ginjaar, E. Bakker, G.J.B. van Ommen, J.J.G. Verschuuren

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 60 KB

english, 2008

45

T.P.1.04 Dual exon skipping in myostatin and dystrophin as a potential therapy for Duchenne muscular dystrophy

D.U. Kemaladewi, W.M.H. Hoogaars, S.H. van Heiningen, J.C.T. van Deutekom, J.T. den Dunnen, G.J.B. van Ommen, A.R. Aartsma-Rus, P. ten Dijke, P.A.C. ’t Hoen

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

46

T.P.5.04 Effect of a mild exercise regime on disease parameters in the mdx mouse model

M. van Putten, C.L. de Winter, W.M.C. van Roon-Mom, G.J.B. van Ommen, P.A.C. ’tHoen, A.M. Aartsma-Rus

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

47

G.P.13.06 Clinical phenotype of Becker muscular dystrophy patients with deletions of exons 45–51 and 50–51

C.S.M. Straathof, A.T.J. Helderman-van den Enden, A. Aartsma-Rus, J.T. den Dunnen, B.M. Verbist, E. Bakker, J.J.G. Verschuuren, H.B. Ginjaar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

48

A 3 months mild functional test regime does not affect disease parameters in young mdx mice

Maaike van Putten, Christa de Winter, Willeke van Roon-Mom, Gert-Jan van Ommen, Peter A.C. ’t Hoen, Annemieke Aartsma-Rus

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 1.35 MB

english, 2010

49

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

Linda J. Popplewell, Carl Adkin, Virginia Arechavala-Gomeza, Annemieke Aartsma-Rus, Christa L. de Winter, Steve D. Wilton, Jennifer E. Morgan, Francesco Muntoni, Ian R. Graham, George Dickson

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 655 KB

english, 2010

50

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

A.T.J.M. Helderman-van den Enden, C.S.M. Straathof, A. Aartsma-Rus, J.T. den Dunnen, B.M. Verbist, E. Bakker, J.J.G.M. Verschuuren, H.B. Ginjaar

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 192 KB

english, 2010