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Page 1
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. Bachinski LL, et al. Among authors: sallinen r. Am J Hum Genet. 2003 Oct;73(4):835-48. doi: 10.1086/378566. Epub 2003 Sep 10. Am J Hum Genet. 2003. PMID: 12970845 Free PMC article.
Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL.
Pajukanta P, Bodnar JS, Sallinen R, Chu M, Airaksinen T, Xiao Q, Castellani LW, Sheth SS, Wessman M, Palotie A, Sinsheimer JS, Demant P, Lusis AJ, Peltonen L. Pajukanta P, et al. Among authors: sallinen r. Mamm Genome. 2001 Mar;12(3):238-45. doi: 10.1007/s003350010265. Mamm Genome. 2001. PMID: 11252174
Novel splice site CACNA1A mutation causing episodic ataxia type 2.
Kaunisto MA, Harno H, Kallela M, Somer H, Sallinen R, Hämäläinen E, Miettinen PJ, Vesa J, Orpana A, Palotie A, Färkkilä M, Wessman M. Kaunisto MA, et al. Among authors: sallinen r. Neurogenetics. 2004 Feb;5(1):69-73. doi: 10.1007/s10048-003-0161-0. Epub 2003 Oct 7. Neurogenetics. 2004. PMID: 14530926
Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.
Kaunisto MA, Sjölind L, Sallinen R, Pettersson-Fernholm K, Saraheimo M, Fröjdö S, Forsblom C, Fagerudd J, Hansen TK, Flyvbjerg A, Wessman M, Groop PH; FinnDiane Study Group. Kaunisto MA, et al. Among authors: sallinen r. Diabetes. 2009 Jul;58(7):1710-4. doi: 10.2337/db08-1495. Epub 2009 Apr 14. Diabetes. 2009. PMID: 19366862 Free PMC article.
16 results