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Prof Aartsma-Rus separates the wheat from the scientific chaff. An overview of research papers for Duchenne & Becker MD in January 2021.

Monthly #apaperaday wrap-up: February 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 February 2022.

Must reads

  • Psychosocial adjustment in adults with Duchenne muscular dystrophy: A pilot study on a shortened parent-report questionnaire Read more >
  • Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial Read more >
  • Italian conference research summary Read more >

Very interesting papers

  • Adeno-Associated Virus (AAV)-Mediated Gene Therapy for Duchenne Muscular Dystrophy: The Issue of Transgene Persistence Read more >
  • Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non-ambulatory males with Duchenne muscular dystrophy from MD STARnet Read more >
  • The Added Value of Patient Engagement in Early Dialogue at EMA: Scientific Advice as a Case Study Read more >
  • Social stress is lethal in the mdx model of Duchenne muscular dystrophy Read more >
  • Paeonia lactiflora extract improves the muscle function of mdx mice, an animal model of Duchenne muscular dystrophy, via downregulating the high mobility group box 1 protein Read more >
  • Lipocalin 2 Influences Bone and Muscle Phenotype in the MDX Mouse Model of Duchenne Muscular Dystrophy Read more >

Additional reading

  • Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMD mdx rat model Read more >
  • Human iPSC model reveals a central role for NOX4 and oxidative stress in Duchenne cardiomyopathy Read more >
  • Structural and Ultrastructural Changes in the Tongue of mdx Mice Read more >
  • Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis 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.