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  1. 2017
  2. 2016
  3. 2014
  4. 2013
  5. 2012
  6. 2011
  7. Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E et al. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Human Mutation. 2011 Apr 1;32(4):445-455. https://doi.org/10.1002/humu.21462
  8. 2010
  9. 2009
  10. 2008
  11. Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M et al. Infantile neuroaxonal dystrophy: What's most important for the diagnosis? European Journal of Paediatric Neurology. 2008 Nov 1;12(6):491-500. https://doi.org/10.1016/j.ejpn.2008.01.005
  12. Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S et al. Neurodegeneration associated with genetic defects in phospholipase A2. Neurology. 2008 Oct 28;71(18):1402-1409. https://doi.org/10.1212/01.wnl.0000327094.67726.28
  13. 2007

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