Monthly #apaperaday wrap-up: June 2022
Prof. Annemieke Aartsma-Rus is taking on a challenge by reading and commenting on a paper a day. She shares her insights, findings and thoughts via her @oligogirl Twitter account. Each month, a curated selection of the relevant papers for Duchenne and Becker muscular dystrophy are presented by the World Duchenne Organization. See below the overview of June 2022.
Must reads
- Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network Read more>
- Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report Read more>
- Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis Read more>
- The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands Read more>
Interesting papers
- Factors associated with the health-related quality of life among people with Duchenne muscular dystrophy: a study using the Health Utilities Index (HUI) Read more>
- Evaluating the Feasibility and Reliability of Remotely Delivering and Scoring the North Star Ambulatory Assessment in Ambulant Patients with Duchenne Muscular Dystrophy Read more>
- Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy Read more>
- Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis Read more>
- Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy Read more>
- Long-term maintenance of dystrophin expression and resistance to injury of skeletal muscle in gene edited DMD mice Read more>
- Do NGS-based techniques represent a first-line testing in suspected Duchenne muscular dystrophy? Read more>
- Pig models for Duchenne muscular dystrophy – from disease mechanisms to validation of new diagnostic and therapeutic concepts Read more>
- Facilitating More Efficient Negotiations for Innovative Therapies: A Value-Based Negotiation Framework Read more>
Additional reading
- mRNA-mediated delivery of gene editing tools to human primary muscle stem cells Read more>
- Transplantation of human iPSC-derived muscle stem cells in the diaphragm of Duchenne muscular dystrophy model mice Read more>
- Antioxidant effects of bis-indole alkaloid indigo and related signaling pathways in the experimental model of Duchenne muscular dystrophy Read more>
- The gRNA Vector Level Determines the Outcome of Systemic AAV CRISPR Therapy for Duchenne Muscular Dystrophy Read more>
- Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy Read more>
- Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy Read more>
We are grateful for prof. Aartsma-Rus for allowing us to share her daily recaps. Follow @oligogirl on Twitter to stay on top of the latest #apaperaday tweets.
About professor Annemieke Aartsma-Rus
Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).
Her work currently focuses on developing antisense-mediated exon skipping as a therapy for Duchenne muscular dystrophy. In addition, in collaborative efforts she aims to bridge the gap between different stakeholders (patients, academics, regulators and industry) involved in drug development for rare diseases.
In 2013 she was elected a member of the junior section of the Dutch Royal Academy of Sciences (KNAW), which consists of what are considered the top 50 scientists in the Netherlands under 45. From 2015 to 2022, she was selected as the most influential scientist in Duchenne muscular dystrophy by Expertscape.
