A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. Meinke Peter et al. EBioMedicine 2019 Dec

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Last Posted: Jan 03, 2020

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• A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
  Meinke Peter et al. EBioMedicine 2019 Dec
• Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
  Signorelli Mirko et al. Journal of cachexia, sarcopenia and muscle 2019 Dec
• Emery-Dreifuss Muscular Dystrophy.
  Heller Scott A et al. Muscle & nerve 2019 Dec
• Detection of collagens by multispectral optoacoustic tomography as an imaging biomarker for Duchenne muscular dystrophy.
  Regensburger Adrian P et al. Nature medicine 2019 Dec 25(12) 1905-1915
• Muscular dystrophies
  E Mercuri et al, The Lancet, November 2019
• Grants for Rare Disease Research
  F Sankar, JAMA< November 19, 2019
• Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
  Zhang Jingjing et al. BMC medical genetics 2019 Nov 20(1) 180
• Gene-Editing Advance Puts More Gene-Based Cures Within Reach
  F Collins, NIH Director Blog, November 5, 2019
• Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.
  Chakravorty Samya et al. Muscle & nerve 2019 60(1) 98-103
• Vision of the Future of Medical Science
  Francis Collins, Time, October 25, 2019

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