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Monthly #apaperaday wrap-up: June 2024

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 2024.

Must reads

  • Immune-mediated myositis following gene therapy for Duchenne muscular dystrophy: a case report > Read more
  • Perspectives on and Experiences With Bullying From Youth With Neuromuscular Conditions > Read more

Interesting papers

  • Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy > Read more
  • Potential limitations of microdystrophin gene therapy for Duchenne muscular dystrophy > Read more
  • Severe gastrointestinal problems in Duchenne muscular dystrophy: A case series > Read more
  • Functional trajectories before and after loss of ambulation in Duchenne muscular dystrophy and implications for clinical trials > Read more
  • Newborn Screening for Duchenne Muscular Dystrophy – The Time is Now > Read more
  • Stride Velocity 95th Centile Detects Decline in Ambulatory Function Over Shorter Intervals than the 6-Minute Walk Test or North Star Ambulatory Assessment in Duchenne Muscular Dystrophy > Read more
  • Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy) > Read more
  • Chimeric Cell Therapies as a Novel Approach for Duchenne Muscular Dystrophy (DMD) and Muscle Regeneration > Read more
  • CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments > Read more
  • Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals > Read more

Additional reading

  • Mitochondria and Reactive Oxygen Species: The Therapeutic Balance of Powers for Duchenne Muscular Dystrophy > Read more
  • Transcriptomic gene signatures measure satellite cell activity in muscular dystrophies > Read more
  • Chronic N-acetyl cysteine treatment does not improve respiratory system performance in the mdx mouse model of Duchenne muscular dystrophy > Read more
  • Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology > 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, or subscribe to the WDO Newsletter to receive the monthly must-reads in your inbox.


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.