Opportunities and challenges for antisense oligonucleotide therapies
Kuijper, Elsa C., Bergsma, Atze J., Pijnappel, W.W.M. Pim, Aartsma‐Rus, Annemieke
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
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Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
Hammond, Suzan M, Aartsma‐Rus, Annemieke, Alves, Sandra, Borgos, Sven E, Buijsen, Ronald A M, Collin, Rob W J, Covello, Giuseppina, Denti, Michela A, Desviat, Lourdes R, Echevarría, Lucía, Foged, Camilla, Gaina, Gisela, Garanto, Alejandro, Goyenvalle, Aurelie T, Guzowska, Magdalena, Holodnuka, Irina, Jones, David R, Krause, Sabine, Lehto, Taavi, Montolio, Marisol, Van Roon‐Mom, Willeke, Arechavala‐Gomeza, Virginia
Published in EMBO molecular medicine (09.04.2021)
Published in EMBO molecular medicine (09.04.2021)
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Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
Aartsma-Rus, Annemieke, Fokkema, Ivo, Verschuuren, Jan, Ginjaar, Ieke, van Deutekom, Judith, van Ommen, Gert-Jan, den Dunnen, Johan T
Published in Human mutation (01.03.2009)
Published in Human mutation (01.03.2009)
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Plasma lipidomic analysis shows a disease progression signature in mdx mice
Tsonaka, Roula, Seyer, Alexandre, Aartsma-Rus, Annemieke, Spitali, Pietro
Published in Scientific reports (21.06.2021)
Published in Scientific reports (21.06.2021)
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Whole‐genome sequencing holds the key to the success of gene‐targeted therapies
Vockley, Jerry, Aartsma‐Rus, Annemieke, Cohen, Jennifer L., Cowsert, Lex M., Howell, R. Rodney, Yu, Timothy W., Wasserstein, Melissa P., Defay, Thomas
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2023)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2023)
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Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice
van Putten, Maaike, Hulsker, Margriet, Young, Courtney, Nadarajah, Vishna D, Heemskerk, Hans, van der Weerd, Louise, 't Hoen, Peter A C, van Ommen, Gert-Jan B, Aartsma-Rus, Annemieke M
Published in The FASEB journal (01.06.2013)
Published in The FASEB journal (01.06.2013)
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Learning, memory and blood–brain barrier pathology in Duchenne muscular dystrophy mice lacking Dp427, or Dp427 and Dp140
Verhaeg, Minou, Adamzek, Kevin, Vijver, Davy, Putker, Kayleigh, Engelbeen, Sarah, Wijnbergen, Daphne, Overzier, Maurice, Suidgeest, Ernst, Weerd, Louise, Aartsma‐Rus, Annemieke, Putten, Maaike
Published in Genes, brain and behavior (01.06.2024)
Published in Genes, brain and behavior (01.06.2024)
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Journal Article
Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models
van der Pijl, Elizabeth M., van Putten, Maaike, Niks, Erik H., Verschuuren, Jan J. G. M., Aartsma-Rus, Annemieke, Plomp, Jaap J.
Published in The European journal of neuroscience (01.06.2016)
Published in The European journal of neuroscience (01.06.2016)
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Journal Article
Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F
Verhaart, Ingrid E C, Putker, Kayleigh, van de Vijver, Davy, Tanganyika-de Winter, Christa L, Pasteuning-Vuhman, Svetlana, Plomp, Jaap J, Aartsma-Rus, Annemieke M, van Putten, Maaike
Published in PloS one (20.08.2019)
Published in PloS one (20.08.2019)
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
van den Bergen, Janneke C, Hiller, Monika, Böhringer, Stefan, Vijfhuizen, Linda, Ginjaar, Hendrika B, Chaouch, Amina, Bushby, Kate, Straub, Volker, Scoto, Mariacristina, Cirak, Sebahattin, Humbertclaude, Véronique, Claustres, Mireille, Scotton, Chiara, Passarelli, Chiara, Lochmüller, Hanns, Muntoni, Francesco, Tuffery-Giraud, Sylvie, Ferlini, Alessandra, Aartsma-Rus, Annemieke M, Verschuuren, Jan J G M, 't Hoen, Peter AC, Spitali, Pietro
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2015)
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Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
Spitali, Pietro, Hettne, Kristina, Tsonaka, Roula, Sabir, Ekrem, Seyer, Alexandre, Hemerik, Jesse B.A., Goeman, Jelle J., Picillo, Esther, Ergoli, Manuela, Politano, Luisa, Aartsma‐Rus, Annemieke
Published in Journal of cellular and molecular medicine (01.04.2018)
Published in Journal of cellular and molecular medicine (01.04.2018)
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Journal Article
Antisense‐mediated exon skipping: a therapeutic strategy for titin‐based dilated cardiomyopathy
Gramlich, Michael, Pane, Luna Simona, Zhou, Qifeng, Chen, Zhifen, Murgia, Marta, Schötterl, Sonja, Goedel, Alexander, Metzger, Katja, Brade, Thomas, Parrotta, Elvira, Schaller, Martin, Gerull, Brenda, Thierfelder, Ludwig, Aartsma‐Rus, Annemieke, Labeit, Siegfried, Atherton, John J, McGaughran, Julie, Harvey, Richard P, Sinnecker, Daniel, Mann, Matthias, Laugwitz, Karl‐Ludwig, Gawaz, Meinrad Paul, Moretti, Alessandra
Published in EMBO molecular medicine (01.05.2015)
Published in EMBO molecular medicine (01.05.2015)
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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies
Ayoglu, Burcu, Chaouch, Amina, Lochmüller, Hanns, Politano, Luisa, Bertini, Enrico, Spitali, Pietro, Hiller, Monika, Niks, Eric H, Gualandi, Francesca, Pontén, Fredrik, Bushby, Kate, Aartsma‐Rus, Annemieke, Schwartz, Elena, Le Priol, Yannick, Straub, Volker, Uhlén, Mathias, Cirak, Sebahattin, ‘t Hoen, Peter A C, Muntoni, Francesco, Ferlini, Alessandra, Schwenk, Jochen M, Nilsson, Peter, Al‐Khalili Szigyarto, Cristina
Published in EMBO molecular medicine (01.07.2014)
Published in EMBO molecular medicine (01.07.2014)
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Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy
Signorelli, Mirko, Ayoglu, Burcu, Johansson, Camilla, Lochmüller, Hanns, Straub, Volker, Muntoni, Francesco, Niks, Erik, Tsonaka, Roula, Persson, Anja, Aartsma‐Rus, Annemieke, Nilsson, Peter, Al‐Khalili Szigyarto, Cristina, Spitali, Pietro
Published in Journal of cachexia, sarcopenia and muscle (01.04.2020)
Published in Journal of cachexia, sarcopenia and muscle (01.04.2020)
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Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model
Marchal, Gerard A., van Putten, Maaike, Verkerk, Arie O., Casini, Simona, Putker, Kayleigh, van Amersfoorth, Shirley C. M., Aartsma-Rus, Annemieke, Lodder, Elisabeth M., Remme, Carol Ann
Published in Scientific reports (07.05.2021)
Published in Scientific reports (07.05.2021)
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Journal Article
Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients
Signorelli, Mirko, Ebrahimpoor, Mitra, Veth, Olga, Hettne, Kristina, Verwey, Nisha, García‐Rodríguez, Raquel, Tanganyika‐deWinter, Christa L, Lopez Hernandez, Luz B, Escobar Cedillo, Rosa, Gómez Díaz, Benjamín, Magnusson, Olafur T, Mei, Hailiang, Tsonaka, Roula, Aartsma‐Rus, Annemieke, Spitali, Pietro
Published in EMBO molecular medicine (09.04.2021)
Published in EMBO molecular medicine (09.04.2021)
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