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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 -
282PDystrophin isoform-dependent neurocognitive profiles in Duchenne muscular dystrophy: findings from the EU-funded multicenter BIND study2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Rubén Miranda, Pien M. M. Weerkamp, Aleksandr I. Kolesnik, Chloe Geagan, Daniela Pia Rosaria Chieffo, A. Würgler Slipsager, +9 more
0citations -
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 -
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
5citations -
Evaluating exon skipping in the central nervous system in Duchenne muscular dystrophy using spatial transcriptomics2026 iScience article 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 -
The behavioural consequences of dystrophinopathy2025 Disease Models & Mechanisms article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Minou A. T. Verhaeg, Elizabeth M. van der Pijl, Christa L. Tanganyika-de Winter, Tiberiu Loredan Stan, A. van Uffelen, Luciano Censoni
8citations -
Learning, memory and blood–brain barrier pathology in Duchenne muscular dystrophy mice lacking Dp427, or Dp427 and Dp1402024 Genes Brain & Behavior article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Minou A. T. Verhaeg, Kevin Adamzek, Kayleigh Putker, Sarah Engelbeen, Daphne Wijnbergen, Maurice Overzier, +4 more
15citations -
306P Evaluating genetic therapies targeting the central nervous system in Duchenne muscular dystrophy using high-resolution spatial transcriptomics2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Ali Reza Ahmadi, L. van Doorne, L. Heezen, Ophélie Vacca, Annemieke M Aartsma-Rus, M. van Putten, +3 more
1citations -
267PThe DuMAND network: a global collaboration to improve understanding and clinical care for neurobehavioral difficulties in Duchenne muscular dystrophy2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Sam Geuens, Eline Cuveele, Sukhvir P. Mahal, Thomas Sejersen, Edmar Zanoteli, Clara Gontijo Camelo, +11 more
0citations -
Longitudinal follow-up of verbal span and processing speed in Duchenne muscular dystrophy2020 European Journal of Paediatric Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Danique M. J. Hellebrekers, Nathalie Doorenweerd, Dirk J. J. Sweere, Sander M. J. van Kuijk, Annemieke M Aartsma-Rus, Sylvia Klinkenberg, +2 more
32citations -
Towards harmonization of clinical tools for assessing Brain Involvement in Dystrophinopathies (BIND); report of four expert workshops: Newcastle, Leiden, Rome, Paris2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Jos G.M. Hendriksen, Pien M. M. Weerkamp, Rubén Miranda, Anna I. Kolesnik, Daniela Chieffo, David Skuse, +4 more
7citations -
312P Genotype and corticosteroid treatment are associated with distinctive variations in gray matter characteristics among patients with Duchenne muscular dystrophy2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Sam Geuens, Jeroen Van Dessel, Hermien E. Kan, R. Govaarts, Erik Harmen Niks, Natalie Goemans, +3 more
0citations -
Assessment of Behavioral Characteristics With Procedures of Minimal Human Interference in the mdx Mouse Model for Duchenne Muscular Dystrophy2021 Frontiers in Behavioral Neuroscience article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sarah Engelbeen, Annemieke M Aartsma-Rus, Bastijn Koopmans, Maarten Loos, Maaike van Putten
15citations -
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles2020 Brain article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Carola Hedberg‐Oldfors, Robert Meyer, Kay Wilhelm Nolte, Yassir Abdul Rahim, Christopher Lindberg, Kristjan Karason, +17 more
32citations -
Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy2020 Pharmacological Research article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Stefano Carlo Previtali, Teresa Gidaro, Jordi Díaz‐Manera, Alberto Andrea Zambon, Stéphanie Carnésecchi, Pascale Roux‐Lombard, +10 more
41citations
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