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Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

Rachel Thompson, Sally Spendiff, Andreas Roos, Pierre R. Bourque, Jodi Warman‐Chardon, Janbernd Kirschner, Rita Horváth, Hanns Lochmüller

2020The Lancet Neurology76 citationsDOI

Topics & Concepts

Massive parallel sequencingIntensive care medicineBioinformaticsMedicineNeuroscienceBiologyDNA sequencingGeneGeneticsNeurogenetic and Muscular Disorders ResearchGenomics and Rare DiseasesRNA Research and Splicing
Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development | Litcius