Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Muscular dystrophies.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
  • Additional Information
    • Affiliation:
      Department of Paediatric Neurology, Catholic University, Rome, Italy.
    • Subject Terms:
    • Abstract:
      Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes. Knowledge of disease-specific complications, implementation of anticipatory care, and medical advances have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected people. A better understanding of the mechanisms underlying the molecular pathogenesis of several disorders and the availability of preclinical models are leading to several new experimental approaches, some of which are already in clinical trials. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments.
    • Journal Subset:
      Biomedical; Editorial Board Reviewed; Europe; Expert Peer Reviewed; Peer Reviewed; UK & Ireland
    • ISSN:
      0099-5355
    • MEDLINE Info:
      PMID: NLM23465426 NLM UID: 2985213R
    • Grant Information:
      GUP11001//Telethon/Italy; MR/K000608/1//Medical Research Council/United Kingdom
    • Publication Date:
      20130719
    • Publication Date:
      20200708
    • DOI:
      10.1016/S0140-6736(12)61897-2
    • Accession Number:
      107949300
  • Citations
    • ABNT:
      MERCURI, E.; MUNTONI, F. Muscular dystrophies. Lancet, [s. l.], v. 381 North American Edition, n. 9869, p. 845–860, 2013. DOI 10.1016/S0140-6736(12)61897-2. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=107949300. Acesso em: 25 out. 2020.
    • AMA:
      Mercuri E, Muntoni F. Muscular dystrophies. Lancet. 2013;381 North American Edition(9869):845-860. doi:10.1016/S0140-6736(12)61897-2
    • APA:
      Mercuri, E., & Muntoni, F. (2013). Muscular dystrophies. Lancet, 381 North American Edition(9869), 845–860. https://doi.org/10.1016/S0140-6736(12)61897-2
    • Chicago/Turabian: Author-Date:
      Mercuri, Eugenio, and Francesco Muntoni. 2013. “Muscular Dystrophies.” Lancet 381 North American Edition (9869): 845–60. doi:10.1016/S0140-6736(12)61897-2.
    • Harvard:
      Mercuri, E. and Muntoni, F. (2013) ‘Muscular dystrophies’, Lancet, 381 North American Edition(9869), pp. 845–860. doi: 10.1016/S0140-6736(12)61897-2.
    • Harvard: Australian:
      Mercuri, E & Muntoni, F 2013, ‘Muscular dystrophies’, Lancet, vol. 381 North American Edition, no. 9869, pp. 845–860, viewed 25 October 2020, .
    • MLA:
      Mercuri, Eugenio, and Francesco Muntoni. “Muscular Dystrophies.” Lancet, vol. 381 North American Edition, no. 9869, Mar. 2013, pp. 845–860. EBSCOhost, doi:10.1016/S0140-6736(12)61897-2.
    • Chicago/Turabian: Humanities:
      Mercuri, Eugenio, and Francesco Muntoni. “Muscular Dystrophies.” Lancet 381 North American Edition, no. 9869 (March 9, 2013): 845–60. doi:10.1016/S0140-6736(12)61897-2.
    • Vancouver/ICMJE:
      Mercuri E, Muntoni F. Muscular dystrophies. Lancet [Internet]. 2013 Mar 9 [cited 2020 Oct 25];381 North American Edition(9869):845–60. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=rzh&AN=107949300