Last Posted: Feb 03, 2020
- Duchenne muscular dystrophy
H Fox et al, BMJ, January 2020 - Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents.
Landrum Peay Holly et al. PloS one 2019 14(5) e0213649 - The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua Jorge A et al. Orphanet journal of rare diseases 2020 Jan 15(1) 11 - The prevalence of muscular dystrophy and spinal muscular atrophy in Croatia: data from national and non-governmental organization registries.
Draušnik Željka et al. Croatian medical journal 2019 Dec 60(6) 488-493 - 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
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