Antisense-Mediated RNA Targeting: Versatile and Expedient Genetic Manipulation in the Brain

Por Zalachoras, Ioannis, Evers, Melvin M., van Roon-Mom, Willeke M. C., Aartsma-Rus, Annemieke M., Meijer, Onno C.
Publicado em 2011

Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice

Por 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.
Publicado em 2013

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

Por Jirka, Silvana M.G., ’t Hoen, Peter A.C., Diaz Parillas, Valeriano, Tanganyika-de Winter, Christa L., Verheul, Ruurd C., Aguilera, Begona, de Visser, Peter C., Aartsma-Rus, Annemieke M.
Publicado no Mol Ther (2018)

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

Por Doorenweerd, Nathalie, Mahfouz, Ahmed, van Putten, Maaike, Kaliyaperumal, Rajaram, t’ Hoen, Peter A. C., Hendriksen, Jos G. M., Aartsma-Rus, Annemieke M., Verschuuren, Jan J. G. M., Niks, Erik H., Reinders, Marcel J. T., Kan, Hermien E., Lelieveldt, Boudewijn P. F.
Publicado no Sci Rep (2017)

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

Por Doorenweerd, Nathalie, Mahfouz, Ahmed, van Putten, Maaike, Kaliyaperumal, Rajaram, t’ Hoen, Peter A. C., Hendriksen, Jos G. M., Aartsma-Rus, Annemieke M., Verschuuren, Jan J. G. M., Niks, Erik H., Reinders, Marcel J. T., Kan, Hermien E., Lelieveldt, Boudewijn P. F.
Publicado no Sci Rep (2018)

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

Por Rutten, Julie W., Klever, Roselin R., Hegeman, Ingrid M., Poole, Dana S., Dauwerse, Hans G., Broos, Ludo A. M., Breukel, Cor, Aartsma-Rus, Annemieke M., Verbeek, J. Sjef, van der Weerd, Louise, van Duinen, Sjoerd G., van den Maagdenberg, Arn M. J. M., Lesnik Oberstein, Saskia A. J.
Publicado no Acta Neuropathol Commun (2015)

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Por de Brouwer, Arjan PM, Nabuurs, Sander B, Verhaart, Ingrid EC, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert BA, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben CJ, van Bokhoven, Hans, Kleefstra, Tjitske
Publicado em 2014

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Por 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
Publicado no J Neurol Neurosurg Psychiatry (2015)

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Por Lemmers, Richard J.L.F., Tawil, Rabi, Petek, Lisa M., Balog, Judit, Block, Gregory J., Santen, Gijs W.E., Amell, Amanda M., van der Vliet, Patrick J., Almomani, Rowida, Straasheijm, Kirsten R., Krom, Yvonne D., Klooster, Rinse, Sun, Yu, den Dunnen, Johan T., Helmer, Quinta, Donlin-Smith, Colleen M., Padberg, George W., van Engelen, Baziel G.M., de Greef, Jessica C., Aartsma-Rus, Annemieke M., Frants, Rune R., de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N., Bakker, Bert, Bamshad, Michael J., Tapscott, Stephen J., Miller, Daniel G., van der Maarel, Silvère M.
Publicado em 2012