Key Duchenne muscular dystrophy scientific publications

In this section, you will discover a selection of key scientific papers and professional guidelines on the management of Duchenne muscular dystrophy (DMD). Be sure to download our ‘Navigating scientific publications’ resource to help you to familiarise yourself with the elements and terms that are commonly seen in different types of scientific publications.

How to reduce the time to a DMD diagnosis

Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e4.
https://www.jpeds.com/article/S0022-3476(18)31550-6/fulltext

The importance of genetic testing for DMD

Aartsma-Rus A, et al. J Med Genet. 2016;53:145–151. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789806/

International standard of care guidelines for the diagnosis and management of DMD

Part 1    Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267.
Part 2    Birnkrant DJ, et al. Lancet Neurol. 2018;17:347–361.
Part 3    Birnkrant DJ, et al. Lancet Neurol. 2018;17:445–455.
http://www.treat-nmd.eu/care/dmd/diagnosis-management-DMD/

DMD care considerations: a guide for families

http://www.treat-nmd.eu/care/dmd/family-guide/translations/

The life expectancy of patients with DMD

Landfeldt E, et al. Eur J Epidemiol. 2020;35:643–653. https://link.springer.com/article/10.1007/s10654-020-00613-8

The use of pre-natal screening to diagnose DMD before birth

Vita GL, Vita G. Neurol Sci. 2020;41:1677–1683. https://www.ncbi.nlm.nih.gov/pubmed/32112218

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