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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:

Année:

2006

Langue:

english

Fichier:

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:

Année:

2009

Langue:

english

Fichier:

PDF, 176 KB

english, 2009

3

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

Année:

2002

Langue:

english

Fichier:

PDF, 165 KB

english, 2002

4

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

Année:

2005

Langue:

english

Fichier:

PDF, 181 KB

english, 2005

5

Extended tropism of an adenoviral vector does not circumvent the maturation-dependent transducibility of mouse skeletal muscle

Judith C. T. van Deutekom, Baohong Cao, Ryan Pruchnic, Thomas J. Wickham, Imre Kovesdi, Johnny Huard

Journal:

The Journal of Gene Medicine

Année:

1999

Langue:

english

Fichier:

PDF, 261 KB

english, 1999

6

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35

Judith C. T. van Deutekom, Dr. Marten H. Hofker, Silke Romberg, Mr. Michel van Geel, Johanna Rommens, Dr. Tracy J. Wright, Jane E. Hewitt, Dr. George W. Padberg, Dr. Cisca Wijmenga, Dr. Rune R. Frants

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 744 KB

english, 1995

7

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

Année:

2009

Langue:

english

Fichier:

PDF, 359 KB

english, 2009

8

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

Ginjaar, Ieke B, Kneppers, Alexander LJ, v d Meulen, Jan-Douwe M, Anderson, Louise VB, Bremmer-Bout, Mattie, van Deutekom, Judith CT, Weegenaar, Jitske, den Dunnen, Johan T, Bakker, Egbert

Journal:

European Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 413 KB

english, 2000

9

Muscle maturation: implications for gene therapy

Judith C.T van Deutekom PhD, Eric P Hoffman PhD, Johnny Huard PhD

Journal:

Molecular Medicine Today

Année:

1998

Langue:

english

Fichier:

PDF, 670 KB

english, 1998

10

Large-scale gene expression analysis of human skeletal myoblast differentiation

Ellen Sterrenburg, Rolf Turk, Peter A.C. 't Hoen, Judith C.T. van Deutekom, Judith M. Boer, Gert-Jan B. van Ommen, Johan T. den Dunnen

Journal:

Neuromuscular Disorders

Année:

2004

Langue:

english

Fichier:

PDF, 375 KB

english, 2004

11

Implications of maturation for viral gene delivery to skeletal muscle

Judith C.T van Deutekom, S.Steven Floyd, David K Booth, Thomas Oligino, David Krisky, Peggy Marconi, Joseph C Glorioso, Johnny Huard

Journal:

Neuromuscular Disorders

Année:

1998

Langue:

english

Fichier:

PDF, 2.07 MB

english, 1998

12

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

Année:

2009

Langue:

english

Fichier:

PDF, 409 KB

english, 2009

13

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

Année:

2007

Langue:

english

Fichier:

PDF, 1.29 MB

english, 2007

14

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

Année:

2008

Langue:

english

Fichier:

PDF, 872 KB

english, 2008

15

The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to themyodystrophymutation on chromosome 8

Prabhjit K. Grewal, Judith C. T. van Deutekom, Kate A. Mills, Richard J. L. F. Lemmers, Kathy D. Mathews, Rune R. Frants, Jane E. Hewitt

Journal:

Mammalian Genome

Année:

1997

Langue:

english

Fichier:

PDF, 1.63 MB

english, 1997

16

Advances in Duchenne muscular dystrophy gene therapy

van Deutekom, Judith C. T., van Ommen, Gert-Jan B.

Journal:

Nature Reviews Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 302 KB

english, 2003

17

Gene Therapy: The ‘pro-sense’ approach to Duchenne muscular dystrophy

van Deutekom, Judith C T

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 58 KB

english, 2005

18

Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions

Cisca Wijmenga, Judith C.T. van Deutekom, Jane E. Hewitt, George W. Padberg, Gert-Jan B. van Ommen, Marten H. Hofker, Rune R. Frants

Journal:

Année:

1994

Fichier:

PDF, 456 KB

1994

19

Antisense-Induced Multiexon Skipping for Duchenne Muscular Dystrophy Makes More Sense

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

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 620 KB

english, 2004

20

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

van Deutekom, Judith C., Janson, Anneke A., Ginjaar, Ieke B., Frankhuizen, Wendy S., Aartsma-Rus, Annemieke, Bremmer-Bout, Mattie, den Dunnen, Johan T., Koop, Klaas, van der Kooi, Anneke J., Goemans,

Journal:

Boston Medical and Surgical Journal

Année:

2007

Langue:

english

Fichier:

PDF, 846 KB

english, 2007

21

Antisense oligonucleotides as personalized medicine for Duchenne muscular dystrophy

van Deutekom, Judith C., de Kimpe, Sjef J., Campion, Giles V.

Journal:

Drug Discovery Today: Therapeutic Strategies

Année:

2013

Langue:

english

Fichier:

PDF, 415 KB

english, 2013

22

A twin-reporter vector for simultaneous analysis of expression signals of divergently transcribed, contiguous genes in filamentous fungi

Punt, Peter J., A. Greaves, Philip, Kuyvenhoven, Anneke, van Deutekom, Judith C.T., Kinghorn, James R., Pouwels, Peter H., van den Hondel, Cees A.M.J.J.

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 485 KB

english, 1991

23

Molecular genetics of facioscapulohumeral muscular dystrophy

Wijmenga, Cisca, Frants, Rune R., Hewitt, Jane E., van Deutekom, Judith C.T., van Geel, Michel, Wright, Tracy J., Padberg, George W., Hofker, Marten H., van Ommen, Gert-Jan B.

Journal:

Neuromuscular Disorders

Année:

1993

Langue:

english

Fichier:

PDF, 387 KB

english, 1993

24

Development of Approaches to Improve Cell Survival in Myoblast Transfer Therapy

Zhuqing Qu, Levent Balkir, Judith C. T. van Deutekom, Paul D. Robbins, Ryan Pruchnic and Johnny Huard

Journal:

The Journal of Cell Biology

Année:

1998

Langue:

english

Fichier:

PDF, 2.80 MB

english, 1998

25

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

Deutekom, Judith C.T.Van, Wljmenga, Cisca, Tlenhoven, Esther A.E.Van, Gruter, Anne-Marie, Hewitt, Jane E., Padberg, George W., Ommen, Gert-Jan. B.van, Hofker, Marten H., Fronts, Rune R.

Journal:

Human Molecular Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 5.63 MB

english, 1993

26

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy

Hewitt, Jane E., Lyle, Robert, Clark, Lorraine N., Valleley, Elizabeth M., Wright, Tracy J., Wijmenga, Cisca, van Deutekom, Judith C.T., Francis, Fiona, Sharpe, Paul T., Hofker, Marten, Frants, Rune R

Journal:

Human Molecular Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 5.20 MB

english, 1994

27

Exonic Sequences Provide Better Targets for Antisense Oligonucleotides Than Splice Site Sequences in the Modulation of Duchenne Muscular Dystrophy Splicing

Aartsma-Rus, Annemieke, Houlleberghs, Hellen, van Deutekom, Judith C.T., van Ommen, Gert-Jan B., 't Hoen, Peter A.C.

Journal:

Oligonucleotides

Année:

2010

Langue:

english

Fichier:

PDF, 109 KB

english, 2010

28

Prednisolone Treatment Does Not Interfere with 2′- O -Methyl Phosphorothioate Antisense-Mediated Exon Skipping in Duchenne Muscular Dystrophy

Verhaart, Ingrid E.C., Heemskerk, Hans, Karnaoukh, Tatyana G., Kolfschoten, Ingrid G.M., Vroon, Anne, van Ommen, Gert-Jan B., van Deutekom, Judith C.T., Aartsma-Rus, Annemieke

Journal:

Human Gene Therapy

Année:

2012

Langue:

english

Fichier:

PDF, 507 KB

english, 2012

29

908. Design and Optimization of U7snRNAs for Skipping of Exon 51 in DMD: Promising Tools for Future Clinical Trials

Goyenvalle, Aurelie, Vulin, Adeline, Lorain, Stephanie, Aartsma-Rus, Annemieke, van Deutekom, Judith C.T., Danos, Olivier, Garcia, Luis

Journal:

Molecular Therapy

Année:

2006

Langue:

english

Fichier:

PDF, 90 KB

english, 2006

30

Inhibition of IL-1 Signaling by Antisense Oligonucleotide-mediated Exon Skipping of IL-1 Receptor Accessory Protein (IL-1RAcP)

Yılmaz-Eliş, A Seda, Aartsma-Rus, Annemieke, ‘t Hoen, Peter AC, Safdar, Huma, Breukel, Cor, van Vlijmen, Bart JM, van Deutekom, Judith, de Kimpe, Sjef, van Ommen, Gert-Jan, Verbeek, J Sjef

Journal:

Molecular Therapy — Nucleic Acids

Année:

2013

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2013

31

The Dynamics of Compound, Transcript, and Protein Effects After Treatment With 2OMePS Antisense Oligonucleotides in mdx Mice

Verhaart, Ingrid E C, van Vliet-van den Dool, Laura, Sipkens, Jessica A, de Kimpe, Sjef J, Kolfschoten, Ingrid G M, van Deutekom, Judith C T, Liefaard, Lia, Ridings, Jim E, Hood, Steve R, Aartsma-Rus,

Journal:

Molecular Therapy — Nucleic Acids

Année:

2014

Langue:

english

Fichier:

PDF, 562 KB

english, 2014

32

Design and Analysis of Effects of Triplet Repeat Oligonucleotides in Cell Models for Myotonic Dystrophy

González-Barriga, Anchel, Mulders, Susan AM, van de Giessen, Jeroen, Hooijer, Jeroen D, Bijl, Suzanne, van Kessel, Ingeborg DG, van Beers, Josee, van Deutekom, Judith CT, Fransen, Jack AM, Wieringa, B

Journal:

Molecular Therapy — Nucleic Acids

Année:

2013

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2013

33

Long-term Exon Skipping Studies With 2′-O-Methyl Phosphorothioate Antisense Oligonucleotides in Dystrophic Mouse Models

Tanganyika-de Winter, Christa L, Heemskerk, Hans, Karnaoukh, Tatyana G, van Putten, Maaike, de Kimpe, Sjef J, van Deutekom, Judith, Aartsma-Rus, Annemieke

Journal:

Molecular Therapy — Nucleic Acids

Année:

2012

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2012

34

Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

Aartsma-Rus, Annemieke, van Vliet, Laura, Hirschi, Marscha, Janson, Anneke AM, Heemskerk, Hans, de Winter, Christa L, de Kimpe, Sjef, van Deutekom, Judith CT, 't Hoen, Peter AC, van Ommen, Gert-Jan B

Journal:

Molecular Therapy

Année:

2009

Langue:

english

Fichier:

PDF, 865 KB

english, 2009

35

Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophy

't Hoen, Peter AC, van der Wees, Caroline GC, Aartsma-Rus, Annemieke, Turk, Rolf, Goyenvalle, Aurélie, Danos, Olivier, Garcia, Luis, van Ommen, Gert-Jan B, den Dunnen, Johan T, van Deutekom, Judith CT

Journal:

Pharmacogenomics

Année:

2006

Langue:

english

Fichier:

PDF, 909 KB

english, 2006

36

A search for genes in the facioscapulohumeral muscular dystrophy region

GREWAL, PAM K., VAN DEUTEKOM, JUDITH C.T., FRANTS, RUNE R., HEWITT, JANE E.

Journal:

Biochemical Society Transactions

Année:

1996

Langue:

english

Fichier:

PDF, 102 KB

english, 1996

37

L2 The expanded cag repeat in the huntingtin gene as target for therapeutic RNA modulation throughout the R6/2 and Q175 HD mouse brain

González-Barriga, Anchel, Kourkouta, Eleni, Kontkanen, Outi, Heikkinen, Taneli, Lehtimäki, Kimmo, Deutekom, Judith CT van, Datson, Nicole A

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2016

Langue:

english

Fichier:

PDF, 81 KB

english, 2016

38

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy

Beekman, Chantal, Janson, Anneke A., Baghat, Aabed, van Deutekom, Judith C., Datson, Nicole A., Fraidenraich, Diego

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 5.55 MB

english, 2018

39

A Sensitive, Reproducible and Objective Immunofluorescence Analysis Method of Dystrophin in Individual Fibers in Samples from Patients with Duchenne Muscular Dystrophy

Beekman, Chantal, Sipkens, Jessica A., Testerink, Janwillem, Giannakopoulos, Stavros, Kreuger, Dyonne, van Deutekom, Judith C., Campion, Giles V., de Kimpe, Sjef J., Lourbakos, Afrodite, Ervasti, Jame

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 4.47 MB

english, 2014

40

Long-Term Efficacy, Safety, and Pharmacokinetics of Drisapersen in Duchenne Muscular Dystrophy: Results from an Open-Label Extension Study

Goemans, Nathalie M., Tulinius, Már, van den Hauwe, Marleen, Kroksmark, Anna-Karin, Buyse, Gunnar, Wilson, Rosamund J., van Deutekom, Judith C., de Kimpe, Sjef J., Lourbakos, Afrodite, Campion, Giles,

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2016

41

Digital Droplet PCR for the Absolute Quantification of Exon Skipping Induced by Antisense Oligonucleotides in (Pre-)Clinical Development for Duchenne Muscular Dystrophy

Verheul, Ruurd C., van Deutekom, Judith C. T., Datson, Nicole A., Asakura, Atsushi

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 2.32 MB

english, 2016

42

Cell Membrane Integrity in Myotonic Dystrophy Type 1: Implications for Therapy

González-Barriga, Anchel, Kranzen, Julia, Croes, Huib J. E., Bijl, Suzanne, van den Broek, Walther J. A. A., van Kessel, Ingeborg D. G., van Engelen, Baziel G. M., van Deutekom, Judith C. T., Wieringa

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 16.91 MB

english, 2015

43

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

Aartsma-Rus, Annemieke, Morgan, Jennifer, Lonkar, Pallavi, Neubert, Hendrik, Owens, Jane, Binks, Michael, Montolio, Marisol, Phadke, Rahul, Datson, Nicole, Van Deutekom, Judith, Morris, Glenn E., Rao,

Journal:

Journal of Neuromuscular Diseases

Année:

2019

Langue:

english

Fichier:

PDF, 123 KB

english, 2019

44

Suppression of Mutant Protein Expression in SCA3 and SCA1 Mice Using a CAG Repeat-Targeting Antisense Oligonucleotide

Kourkouta, Eleni, Weij, Rudie, González-Barriga, Anchel, Mulder, Melissa, Verheul, Ruurd, Bosgra, Sieto, Groenendaal, Bas, Puoliväli, Jukka, Toivanen, Jussi, van Deutekom, Judith C.T., Datson, Nicole

Journal:

Molecular Therapy — Nucleic Acids

Année:

2019

Fichier:

PDF, 1.67 MB

2019

45

Using a State-of-the-Art Toolbox to Evaluate Molecular and Functional Readouts of Antisense Oligonucleotide-Induced Exon Skipping in mdx Mice

Datson, Nicole A., Bijl, Suzanne, Janson, Anneke, Testerink, Janwillem, van den Eijnde, Rani, Weij, Rudie, Puoliväli, Jukka, Lehtimäki, Kimmo, Bragge, Timo, Ahtoniemi, Toni, van Deutekom, Judith C.

Journal:

Nucleic Acid Therapeutics (Formerly Oligonucleotides)

Année:

2019

Fichier:

PDF, 1.11 MB

2019

46

LATE BREAKING NEWS E-POSTER PRESENTATION

ONeill, Charles, Hedlund, Maria, Chandra, Sundeep, Hock, M Benjamin, Melton, Andrew, Oppeneer, Todd, Cherala, Ganesh, Aoyagi-Scharber, Mika, Frazer-Abel, Ashley, Datson, Nicole, van Deutekom, Judith,

Journal:

Neuromuscular Disorders

Année:

2020

Fichier:

PDF, 61 KB

2020