Evidence‐based path to newborn screening for duchenne muscular dystrophy

By J. Mendell, C. Shilling, N. Leslie, K. Flanigan, R. al‐Dahhak, J. Gastier-Foster, Kelley Kneile, D. Dunn, B. Duval, A. Aoyagi and 9 more. Annals of Neurology, 2012

745 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/07733f655e1476d7007a320c196b4915afadd7ae

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. J. Mendell
2. S. Al-Zaidy
3. K. Lim
4. L. Rodino-Klapac
5. R. Maruyama
6. Kimberly Goodspeed
7. T. Yokota
8. S. Gray

Citations in the corpus

• Current Clinical Applications of In Vivo Gene Therapy with AAVs (2020, background): “The incidence is 1:5,000 male births.(22,23) Functional dystrophin production of a varying amount results from targeting specific mutations amenable to exon-skipping.”
• Eteplirsen in the treatment of Duchenne muscular dystrophy (2017, background): “It affects around one in 3,500–5,000 males born worldwide.(2,3) The disorder progresses rapidly, with boys losing ambulation by 12 years of age or earlier; death often occurs within the 20s, usually due to respiratory or cardiac complications.”
• Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management (2018, neutral): “Recently, a two-tier newborn screening diagnostic system was reported, 2 in which samples that revealed an increased creatine kinase concentration were then tested for dystrophin gene mutations.”