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1.	Thangarajh, M, et al. (author) The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy 2018 In: Neurology. - 1526-632X. ; 91:13, s. E1215-E1219 Journal article (peer-reviewed)
2.	Bushby, Katharine, et al. (author) Ataluren treatment of patients with nonsense mutation dystrophinopathy. 2014 In: Muscle & nerve. - : Wiley. - 1097-4598 .- 0148-639X. ; 50:4, s. 477-87 Journal article (peer-reviewed)abstract Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.
3.	Sanger, TD, et al. (author) Definition and classification of hyperkinetic movements in childhood 2010 In: Movement disorders : official journal of the Movement Disorder Society. - : Wiley. - 1531-8257. ; 25:11, s. 1538-1549 Journal article (peer-reviewed)

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: Medina, J (1); Muntoni, F. (1); Schara, U. (1); Straub, V. (1); Sejersen, T (1); Kirschner, J (1); show more...; North, K (1); Bushby, K (1); Wang, L (1); Parson, J. (1); Connolly, A. (1); Collins, J (1); MCDONALD, C (1); Bianco, F (1); Rose, J (1); Hallett, M (1); Day, J (1); Chen, R (1); Pohl, A. (1); Forssberg, H (1); Sampson, J. (1); Pandey, R. (1); Anderson, H (1); Mesterman, R (1); Swoboda, KJ (1); Collins, A. (1); Goemans, N (1); Tulinius, Mar, 1953 (1); D'Amico, A. (1); De Sanctis, R (1); Campbell, C. (1); Heatwole, C. (1); Wang, YX (1); Messina, S. (1); Han, J (1); Smith, E (1); Emma, F (1); Moore, Steven A (1); Harms, M. (1); Smeyers, P. (1); Fowler, E (1); Darin, N (1); Wong, B (1); Levy, N (1); Campbell, Craig (1); Flanigan, Kevin M. (1); Nascimento, A (1); Yang, M. (1); Bertini, E (1); Chabrol, B (1); show less...

University: Karolinska Institutet (3); University of Gothenburg (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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