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2. Report of the European Medicines Agency Conference on RNA-Based Medicines

Author

Ehmann, Falk, primary, Kuhn, Andreas, additional, Pasmooij, Anna Maria Gerdina, additional, Humphreys, Anthony, additional, Van Hengel, Arjon, additional, Dooley, Brian, additional, Anliker, Brigitte, additional, Svensson, Camilla, additional, Capaldi, Daniel, additional, Henshall, David, additional, Cooke, Emer, additional, Zhou, Haiyan, additional, Bastaerts, Hilde, additional, Smink, Jeske, additional, Van Gerven, Joop, additional, Enes, Leonor, additional, Nechev, Lubomir, additional, Hoefnagel, Marcel, additional, Driessens, Mariëtte, additional, Wenger, Michael, additional, Blanquie, Oriane, additional, Widomski, Pawel, additional, Herold, Ralf, additional, Thürmer, René, additional, Ruiz, Sol, additional, Thirstrup, Steffen, additional, Goody, Susan, additional, Zaks, Tal, additional, Cordò, Valentina, additional, and Aartsma-Rus, Annemieke M., additional

Published
2024
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5. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Author

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, ʼt Hoen, Peter AC, and Spitali, Pietro

Published
2015
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6. Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy

Author

Hellebrekers, Danique M. J., 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., Hellebrekers, Danique M. J., 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., and Hendriksen, Jos G. M.

Abstract

Neurocognitive deficits are frequently described in Duchenne muscular dystrophy (DMD), but it is unknown how these progress over time. Our aim was to longitudinally assess verbal span capacity and information processing speed in DMD and to explore a genotype-phenotype relation. Verbal span and processing speed scores were available of 28 males with DMD on two time-points, with a mean time interval of 28.34 months (SD = 16.09). The cohort contained of six patients missing only dystrophin isoform Dp427, sixteen missing Dp427 and Dp140, and six were undeterminable. A lower verbal span capacity was found at the first and second assessment, whereas processing speed was normal at both time-points. Post-hoc analyses suggested lower scores on verbal span and processing speed for patients missing Dp427 and Dp140. In DMD, a developmental stagnation in verbal span capacity, irrespective of normal processing speed, is detected through longitudinal follow-up. This appears more pronounced in patients missing Dp427 and Dp140. (C) 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Published
2020

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

Author

Doorenweerd, Nathalie, primary, Mahfouz, Ahmed, additional, van Putten, Maaike, additional, Kaliyaperumal, Rajaram, additional, t’ Hoen, Peter A. C., additional, Hendriksen, Jos G. M., additional, Aartsma-Rus, Annemieke M., additional, Verschuuren, Jan J. G. M., additional, Niks, Erik H., additional, Reinders, Marcel J. T., additional, Kan, Hermien E., additional, and Lelieveldt, Boudewijn P. F., additional

Published
2018
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10. 226th ENMC International Workshop

Author

Aartsma-Rus, Annemieke, primary, Ferlini, Alessandra, additional, McNally, Elizabeth M., additional, Spitali, Pietro, additional, Sweeney, H. Lee, additional, Aartsma-Rus, Annemieke M., additional, Szigyarto, Christina Al-Khalili, additional, Bello, Luca, additional, Bronson, Abby, additional, Brown, Kristy, additional, Buccella, Filippo, additional, Chadwick, Jessica, additional, Frank, Diane, additional, Hoffman, Eric, additional, Larkindale, Jane, additional, McClorey, G., additional, McNally, Elizabeth, additional, Munschauer, Rick, additional, Muntoni, Francesco, additional, Owens, Jane, additional, Schara, Ulrike, additional, Straub, Volker, additional, Sweeney, Lee, additional, Tinsley, Jon, additional, Versnel, Jenny, additional, Vroom, Elizabeth, additional, and Welch, Ellen, additional

Published
2018
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12. Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Author

Doorenweerd, Nathalie (author), Mahfouz, A.M.E.T.A. (author), van Putten, Maaike (author), Kaliyaperumal, Rajaram (author), 't Hoen, Peter A.C. (author), Hendriksen, Jos G.M. (author), Aartsma-Rus, Annemieke M. (author), Verschuuren, Jan J.G.M. (author), Niks, Erik H. (author), Reinders, M.J.T. (author), Kan, Hermien E. (author), Lelieveldt, B.P.F. (author), Doorenweerd, Nathalie (author), Mahfouz, A.M.E.T.A. (author), van Putten, Maaike (author), Kaliyaperumal, Rajaram (author), 't Hoen, Peter A.C. (author), Hendriksen, Jos G.M. (author), Aartsma-Rus, Annemieke M. (author), Verschuuren, Jan J.G.M. (author), Niks, Erik H. (author), Reinders, M.J.T. (author), Kan, Hermien E. (author), and Lelieveldt, B.P.F. (author)

Abstract

Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders. To gain more insights into the role of dystrophin in this cognitive phenotype, we performed a comprehensive analysis of the expression patterns of dystrophin isoforms across human brain development, using unique transcriptomic data from Allen Human Brain and BrainSpan atlases. Dystrophin isoforms show large changes in expression through life with pronounced differences between the foetal and adult human brain. The Dp140 isoform was expressed in the cerebral cortex only in foetal life stages, while in the cerebellum it was also expressed postnatally. The Purkinje isoform Dp427p was virtually absent. The expression of dystrophin isoforms was significantly associated with genes implicated in neurodevelopmental disorders, like autism spectrum disorders or attention-deficit hyper-activity disorders, which are known to be associated to DMD. We also identified relevant functional associations of the different isoforms, like an association with axon guidance or neuron differentiation during early development. Our results point to the crucial role of several dystrophin isoforms in the development and function of the human brain., Pattern Recognition and Bioinformatics

Published
2017
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13. Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Author

Doorenweerd, Nathalie, primary, Mahfouz, Ahmed, additional, van Putten, Maaike, additional, Kaliyaperumal, Rajaram, additional, t’ Hoen, Peter A. C., additional, Hendriksen, Jos G. M., additional, Aartsma-Rus, Annemieke M., additional, Verschuuren, Jan J. G. M., additional, Niks, Erik H., additional, Reinders, Marcel J. T., additional, Kan, Hermien E., additional, and Lelieveldt, Boudewijn P. F., additional

Published
2017
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14. Environmental 24-hr Cycles Are Essential for Health

Author

Lucassen, Eliane A., primary, Coomans, Claudia P., additional, van Putten, Maaike, additional, de Kreij, Suzanne R., additional, van Genugten, Jasper H.L.T., additional, Sutorius, Robbert P.M., additional, de Rooij, Karien E., additional, van der Velde, Martijn, additional, Verhoeve, Sanne L., additional, Smit, Jan W.A., additional, Löwik, Clemens W.G.M., additional, Smits, Hermelijn H., additional, Guigas, Bruno, additional, Aartsma-Rus, Annemieke M., additional, and Meijer, Johanna H., additional

Published
2016
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16. The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

Author

Rutten, Julie W., primary, Klever, Roselin R., additional, Hegeman, Ingrid M., additional, Poole, Dana S., additional, Dauwerse, Hans G., additional, Broos, Ludo A. M., additional, Breukel, Cor, additional, Aartsma-Rus, Annemieke M., additional, Verbeek, J. Sjef, additional, van der Weerd, Louise, additional, van Duinen, Sjoerd G., additional, van den Maagdenberg, Arn M. J. M., additional, and Lesnik Oberstein, Saskia A. J., additional

Published
2015
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17. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessingSPP1andLTBP4variants

Author

van den Bergen, Janneke C, primary, Hiller, Monika, additional, Böhringer, Stefan, additional, Vijfhuizen, Linda, additional, Ginjaar, Hendrika B, additional, Chaouch, Amina, additional, Bushby, Kate, additional, Straub, Volker, additional, Scoto, Mariacristina, additional, Cirak, Sebahattin, additional, Humbertclaude, Véronique, additional, Claustres, Mireille, additional, Scotton, Chiara, additional, Passarelli, Chiara, additional, Lochmüller, Hanns, additional, Muntoni, Francesco, additional, Tuffery-Giraud, Sylvie, additional, Ferlini, Alessandra, additional, Aartsma-Rus, Annemieke M, additional, Verschuuren, Jan J G M, additional, 't Hoen, Peter AC, additional, and Spitali, Pietro, additional

Published
2014
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18. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Author

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

Published
2013
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20. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Author

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

Published
2012
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22. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Author

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, and Kleefstra, Tjitske

Subjects
DELETION mutation, MUSCULAR dystrophy genetics, DYSTROPHIN genes, X-linked genetic disorders, AMINO acids, DYSTROPHIN genetics, CREATINE kinase
Abstract

We have identified a deletion of 3 base pairs in the dystrophin gene (DMD), c.9711_9713del, in a family with nonspecific X-linked intellectual disability (ID) by sequencing of the exons of 86 known X-linked ID genes. This in-frame deletion results in the deletion of a single-amino-acid residue, Leu3238, in the brain-specific isoform Dp71 of dystrophin. Linkage analysis supported causality as the mutation was present in the 7.6 cM linkage interval on Xp22.11-Xp21.1 with a maximum positive LOD score of 2.41 (MRX85 locus). Molecular modeling predicts that the p.(Leu3238del) deletion results in the destabilization of the C-terminal domain of dystrophin and hence reduces the ability to interact with β-dystroglycan. Correspondingly, Dp71 protein levels in lymphoblastoid cells from the index patient are 6.7-fold lower than those in control cell lines (P=0.08). Subsequent determination of the creatine kinase levels in blood of the index patient showed a mild but significant elevation in serum creatine kinase, which is in line with impaired dystrophin function. In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy. [ABSTRACT FROM AUTHOR]

Published
2014
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23. Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice.

Author

van Putten, Maaike, Huisker, Margriet, Young, Courtney, Nadarajah, Vishna D., Heemskerk, Hans, van der Weerd, Louise, 't Hoen, Peter A. C., van Ommen, Gert-Jan B., and Aartsma-Rus, Annemieke M.

Subjects
DYSTROPHIN, MUSCLE diseases, PROTEIN research, KYPHOSIS, RESPIRATORY insufficiency, HEART failure, DUCHENNE muscular dystrophy
Abstract

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by the lack of functional dystrophin. There is no cure, but several clinical trials aimed to restore the synthesis of functional dystrophin are underway. The dystrophin levels needed for improvement of muscle pathology, function, and overall vitality are not known. Here, we describe the mdx/utrn-/-/XistΔhs mouse model, which expresses a range of low dystrophin levels, depending on the degree of skewing of X inactivation in a utrophin-negative background. Mdx/utrn-/- mice develop severe muscle weakness, kyphosis, respiratory and heart failure, and premature death closely resembling DMD pathology. We show that at dystrophin levels < 4%, survival and motor function in these animals are greatly improved. In mice expressing >4% dystrophin, histopathology is ameliorated, as well. These findings suggest that the dystrophin levels needed to benefit vitality and functioning of patients with DMD might be lower than those needed for full protection against muscle damage. [ABSTRACT FROM AUTHOR]

Published
2013
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