| 1 | CLCN1, DM2
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| Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
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| Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB.
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| Yale J Biol Med 86(1):101-6. Epub 2013 Mar 12.
2013
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| 2 | CELF1, DM1, DM2
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| Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2.
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| Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G.
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| PLoS One 8(12):e83777. doi: 10.1371/journal.pone.0083777.
2013
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| 3 | CNBP, DM1, DM2, DMPK
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| Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges.
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| Sicot G, Gourdon G, Gomes-Pereira M.
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| Hum Mol Genet 20(R2):R116-23. doi: 10.1093/hmg/ddr343. Epub 2011 Aug 5. Review.
2011
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| 4 | DM2, MBNL1
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| Selective inhibition of MBNL1-CCUG interaction by small molecules toward potential therapeutic agents for myotonic dystrophy type 2 (DM2).
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| Wong CH, Fu Y, Ramisetty SR, Baranger AM, Zimmerman SC.
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| Nucleic Acids Res 39(20):8881-90. doi: 10.1093/nar/gkr415. Epub 2011 Jul 18.
2011
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| 5 | CLCN1, CNBP, DM2, MCB, MCT
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| Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
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| Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T.
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| Clin Genet 80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19.
2011
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| 6 | DM1, DM2, LDB3
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| Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
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| Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B.
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| Acta Neuropathol 119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12.
2010
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| 7 | CNBP, DM1, DM2
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| Absence of a differentiation defect in muscle satellite cells from DM2 patients.
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| Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, Tarnopolsky M, Schoser B, Puymirat J.
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| Neurobiol Dis 36(1):181-90. Epub 2009 Jul 24.PMID: 19632331 2009
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| 8 | CNBP, DM2
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| Reduction of the rate of protein translation in patients with myotonic dystrophy 2.
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| Huichalaf C, Schoser B, Schneider-Gold C, Jin B, Sarkar P, Timchenko L.
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| J Neurosci 29(28):9042-9.PMID: 19605641 2009
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| 9 | DM2
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| Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.
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| Auvinen S, Suominen T, Hannonen P, Bachinski LL, Krahe R, Udd B.
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| Arthritis Rheum 58(11):3627-31.PMID: 18975316 2008
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| 10 | CNBP, DM2
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| Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion.
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| Lucchiari S, Pagliarani S, Corti S, Mancinelli E, Servida M, Fruguglietti E, Sansone V, Moggio M, Bresolin N, Comi GP, Meola G.
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| J Neurol Sci 275(1-2):159-63. Epub 2008 Sep 18.PMID: 18804219 2008
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| 11 | CNBP, DM2
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| Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy.
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| Bassez G, Chapoy E, Bastuji-Garin S, Radvanyi-Hoffman H, Authier FJ, Pellissier JF, Eymard B, Gherardi RK.
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| J Neuropathol Exp Neurol 67(4):319-25.PMID: 18379436 2008
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| 12 | CNBP, DM1, DM2, DMPK
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| Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
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| Cho DH, Tapscott SJ.
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| Biochim Biophys Acta 1772(2):195-204. Epub 2006 Jun 20. Review.
2007
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| 13 | DM2, CNBP
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| DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.
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| Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP.
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| Hum Mol Genet 15(11):1808-15. Epub 2006 Apr 19. 2006
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| 14 | CNBP, DM2
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| Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
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| Vallo L, Bonifazi E, Borgiani P, Novelli G, Botta A.
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| Mol Cell Probes 19(1):71-4. Epub 2004 Nov 12. 2005
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| 15 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 16 | DM2, CNBP, DM1, DMPK
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| Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.
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| Maurage CA, Udd B, Ruchoux MM, Vermersch P, Kalimo H, Krahe R, Delacourte A, Sergeant N.
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| Neurology 65(10):1636-8. 2005
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| 17 | DM1, DM2, INSR
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| Insulin receptor splicing alteration in myotonic dystrophy type 2.
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| Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, Day JW.
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| Am J Hum Genet 74(6):1309-13. Epub 2004 Apr 26. 2004
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| 18 | DM2, CNBP
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| Homozygosity for CCTG mutation in myotonic dystrophy type 2.
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| Schoser BG, Kress W, Walter MC, Halliger-Keller B, Lochmuller H, Ricker K.
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| Brain 127(Pt 8):1868-77. Epub 2004 Jul 1. 2004
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| 19 | DM2
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| PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype
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| Bonsch D, Neumann C, Lang-Roth R, Witte O, Lamprecht-Dinnesen A, Deufel T.
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| Clin Genet 63(1):73-5. No abstract available. 2003
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| 20 | DM2, CNBP
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| 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.
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| 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.
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| Am J Hum Genet 73(4):835-48. Epub 2003 Sep 10. 2003
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| 21 | DM2, CNBP
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| Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.
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| Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP.
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| Am J Hum Genet 73(4):849-62. Epub 2003 Sep 22. 2003
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| 22 | DM2, CNBP
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| Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
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| Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP.
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| Neurology 60(4):657-64. 2003
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| 23 | DM1, DM2
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| Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.
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| Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, Laforet P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B.
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| Neurology 60(11):1854-7. 2003
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| 24 | DM1, DM2
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| Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.
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| Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA.
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| Ann Neurol 54(6):760-8. 2003
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| 25 | DFNA8, DFNB15, DM2
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| A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
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| Bonsch D, Scheer P, Neumann C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T.
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| Eur J Hum Genet 9(3):165-70. 2001
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| 26 | DM2,CNBP
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| Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
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| Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP.
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| Science 293(5531):864-7. 2001
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| 27 | DM2
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| Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2).
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| Day JW, et al.
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| Neuromuscul Disord 9(1):19-27 1999
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| 28 | DM2
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| Linkage of proximal myotonic myopathy to chromosome 3q.
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| Ricker K, et al.
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| Neurology 52(1):170-1 1999
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| 29 | DM2
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| Genetic mapping of a second myotonic dystrophy locus.
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| Ranum LPW, et al.
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| Nat Genet 19 : 196-198. 1998
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