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The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rachele Rossi, Annemieke M Aartsma-Rus, Francesco Muntoni A, Aurélie Goyenvalle, Pietro Spitali
3citations -
Myonuclear domain-associated and central nucleation-dependent spatial restriction of dystrophin protein expression in a novel DMD mouse model2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Katarzyna Chwalenia, Vivi-Yun Feng, Nicole Hemmer, John C. W. Hildyard, Liberty E. Roskrow, Richard J. Piercy, +5 more
1citations -
Myonuclear Domain‐Associated and Central Nucleation‐Dependent Spatial Restriction of Dystrophin Protein Expression2026 Journal of Cachexia Sarcopenia and Muscle article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Katarzyna Chwalenia, Vivi-Yun Feng, Nicole Hemmer, John C. W. Hildyard, Liberty E. Roskrow, Richard J. Piercy, +5 more
2citations -
T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy2022 Human Gene Therapy article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Karen Anthony, Pierpaolo Ala, Francesco Catapano, Jinhong Meng, Joana Domingos, Mark M. Perry, +15 more
12citations -
Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Zaïda Koeks, Chantal Beekman, Mirko Signorelli, Hermine A. van Duyvenvoorde, Janneke C. van den Bergen, Melissa T. Hooijmans, +7 more
24citations -
Quantification of a serum titin fragment reflects dystrophin restoration in mdx mice and disease severity in patients with dystrophinopathies2026 Journal of Neuromuscular Diseases article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Camilla Johansson, J Boehler, Kristy J. Brown, Albert Jiménez-Requena, Andreas Hober, Fredrik Edfors, +9 more
0citations -
Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain2025 Cells article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Konstantina Tetorou, Artadokht Aghaeipour, Talia E. Gileadi, Amel Saoudi, Pablo Perdomo Quinteiro, Jorge Aragón, +7 more
4citations -
Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access cited by 1 patent
Pin Lyu, Kyung Whan Yoo, Manish Yadav, Anthony Atala, Annemieke M Aartsma-Rus, Maaike van Putten, +1 more
10citations -
Large-scale genome editing based on high-capacity adenovectors and CRISPR-Cas9 nucleases rescues full-length dystrophin synthesis in DMD muscle cells2022 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Francesca Tasca, Marcella Brescia, Qian Wang, Jin Liu, Josephine M. Janssen, Károly Szuhai, +1 more
21citations -
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ana Gonçalves, Ana María Fortuna, Yavuz Ariyürek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, +4 more
12citations -
Dystrophin isoform deficiency and upper‐limb and respiratory function in Duchenne muscular dystrophy2025 Developmental Medicine & Child Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Mary Chesshyre, Deborah A. Ridout, Valeria Ricotti, Silvana De Lucia, Erik Harmen Niks, Volker W. Straub, +6 more
3citations -
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 20192020 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
J. Hendriksen, Mathula Thangarajh, Hermien E. Kan, Francesco Muntoni A, Y. Aoki, Dr M. Colvin, +20 more
32citations -
655PCounteracting reactive oxygen species in models of Duchenne muscular dystrophy improves antisense-oligonucleotide mediated dystrophin recovery2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Remko Goossens, Anne-Fleur E. Schneider, Galina E. Filonova, C. Tanganyika-de Winter, Annemieke M Aartsma-Rus
0citations -
Selection-free precise gene repair using high-capacity adenovector delivery of advanced prime editing systems rescues dystrophin synthesis in DMD muscle cells2024 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access
Qian Wang, Sabrina Capelletti, Jin Liu, Josephine M. Janssen, Manuel A.F.V. Gonçalves
24citations -
288PCharacterization of four novel humanized Duchenne muscular dystrophin mouse models with deletions of exon 44, 45, 52 or 532025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
C. Tanganyika-de Winter, S. Greenthaner, Margot M. L. Linssen, Jill W. C. Claassens, Conny M. Brouwers, Peter Hohenstein, +1 more
0citations -
Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model2020 PLoS ONE article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Alper Yavas, Rudie Weij, Maaike van Putten, Eleni Kourkouta, Chantal Beekman, Jukka T. Puoliväli, +8 more
30citations -
Evaluating exon-skipping therapies targeting the central nervous system in Duchenne muscular dystrophy using high-resolution spatial transcriptomics2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sharon I. de Vries, L. Heezen, Ophélie Vacca, Mathilde Doisy, Annemieke M Aartsma-Rus, Maaike van Putten, +3 more
0citations -
Four new mouse models of Duchenne muscular dystrophy with clinically relevant exon deletions in the human DMD gene2026 Disease Models & Mechanisms article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Maaike van Putten, Margot M. L. Linssen, C. Tanganyika-de Winter, Conny M. Brouwers, Jill W. C. Claassens, Nisha E. Verwey, +3 more
0citations -
Premature termination codons in the DMD gene cause reduced local mRNA synthesis2020 Proceedings of the National Academy of Sciences article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents
Raquel García‐Rodríguez, Monika Hiller, Laura Jiménez-Gracia, Zarah van der Pal, Judit Balog, Kevin Adamzek, +2 more
80citations