| 1 | DM1, MBNL1, MBNL2
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| Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.
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| Furuta M, Kimura T, Nakamori M, Matsumura T, Fujimura H, Jinnai K, Takahashi MP, Mochizuki H, Yoshikawa H.
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| Neuroreport 29(3):235-240. doi: 10.1097/WNR.0000000000000968.
2018
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| 2 | DM1, MBNL1
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| Design of a "Mini" Nucleic Acid Probe for Cooperative Binding of an RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1.
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| Hsieh WC, Bahal R, Thadke SA, Bhatt K, Sobczak K, Thornton C, Ly DH.
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| Biochemistry 57(6):907-911. doi: 10.1021/acs.biochem.7b01239. Epub 2018 Jan 19.
2018
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| 3 | DM1, MBNL1
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| Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
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| Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X.
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| Invest Ophthalmol Vis Sci 58(11):4579-4585. doi: 10.1167/iovs.17-22350.
2017
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| 4 | DM1, DMPK
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| Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients.
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| Ravel-Chapuis A, Gunnewiek AK, Bélanger G, Parks TE, Côté J, Jasmin BJ.
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| Mol Biol Cell ol Biol Cell. 2016 Mar 30. pii: mbc.E15-06-0356. [Epub ahead of print]
2016
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| 5 | DM1, STAU1
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| Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier.
|
| Bondy-Chorney E, Crawford Parks TE, Ravel-Chapuis A, Klinck R, Rocheleau L, Pelchat M, Chabot B, Jasmin BJ, Côté J.
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| PLoS Genet 12(1):e1005827. doi: 10.1371/journal.pgen.1005827. eCollection 2016 Jan.
2016
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| 6 | 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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| 7 | DM1, DMPK
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| Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
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| Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.
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| J Mol Diagn 15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13.
2013
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| 8 | DM1
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| Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.
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| Santoro M, Masciullo M, Pietrobono R, Conte G, Modoni A, Bianchi ML, Rizzo V, Pomponi MG, Tasca G, Neri G, Silvestri G.
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| J Neurol 260(5):1245-57. doi: 10.1007/s00415-012-6779-9. Epub 2012 Dec 23.
2013
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| 9 | DM1, MBNL2
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| Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
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| Charizanis K, Lee KY, Batra R, Goodwin M, Zhang C, Yuan Y, Shiue L, Cline M, Scotti MM, Xia G, Kumar A, Ashizawa T, Clark HB, Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares M Jr, Darnell RB, Swanson MS.
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| Neuron 75(3):437-50. doi: 10.1016/j.neuron.2012.05.029.
2012
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| 10 | DM1, DMPK
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| Targeting nuclear RNA for in vivo correction of myotonic dystrophy.
|
| Wheeler TM, Leger AJ, Pandey SK, MacLeod AR, Nakamori M, Cheng SH, Wentworth BM, Bennett CF, Thornton CA.
|
| Nature 488(7409):111-5. doi: 10.1038/nature11362.
2012
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| 11 | DM1, DMPK
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| Altered replication in human cells promotes DMPK (CTG)(n) ˇ (CAG)(n) repeat instability.
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| Liu G, Chen X, Gao Y, Lewis T, Barthelemy J, Leffak M.
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| Mol Cell Biol 32(9):1618-32. doi: 10.1128/MCB.06727-11. Epub 2012 Feb 21.
2012
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| 12 | DM1, DMPK
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| Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
|
| López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE.
|
| Hum Mol Genet 20(1):1-15. Epub 2010 Nov 1.
2011
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| 13 | ACTN2, DM1, PDLIM3
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| Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
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| Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
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| Biochem Biophys Res Commun 409(1):64-9. Epub 2011 Apr 28. 2011
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| 14 | DM1, SPEN
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| RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP.
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| Dansithong W, Jog SP, Paul S, Mohammadzadeh R, Tring S, Kwok Y, Fry RC, Marjoram P, Comai L, Reddy S.
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| EMBO Rep 12(7):735-42. doi: 10.1038/embor.2011.86.
2011
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| 15 | 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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| 16 | DM1, MBNL1
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| Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.
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| Paul S, Dansithong W, Jog SP, Holt I, Mittal S, Brook JD, Morris GE, Comai L, Reddy S.
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| J Biol Chem 286(44):38427-38. doi: 10.1074/jbc.M111.255224. Epub 2011 Sep 7.
2011
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| 17 | CELF1, DM1, DMPK, MBNL1
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| Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.
|
| Koshelev M, Sarma S, Price RE, Wehrens XH, Cooper TA.
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| Hum Mol Genet 19(6):1066-75. Epub 2010 Jan 5.
2010
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| 18 | DM1, DMPK
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| Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
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| Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.
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| Hum Mol Genet 19(8):1399-412. Epub 2010 Jan 15.PMID: 20080938 2010
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| 19 | DM1, DMPK
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| Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
|
| Cleary JD, Tomé S, López Castel A, Panigrahi GB, Foiry L, Hagerman KA, Sroka H, Chitayat D, Gourdon G, Pearson CE.
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| Nat Struct Mol Biol 17(9):1079-87. Epub 2010 Aug 15.
2010
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| 20 | 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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| 21 | DM1, DMPK, MBNL1
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| A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.
|
| Arambula JF, Ramisetty SR, Baranger AM, Zimmerman SC.
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| Proc Natl Acad Sci U S A 106(38):16068-73. Epub 2009 Sep 8.PMID: 19805260 2009
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| 22 | CNBP, DM1, DM2
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| Absence of a differentiation defect in muscle satellite cells from DM2 patients.
|
| 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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| 23 | DM1, DMPK
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| A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis.
|
| Oude Ophuis RJ, Wijers M, Bennink MB, van de Loo FA, Fransen JA, Wieringa B, Wansink DG.
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| PLoS One 4(11):e8024.PMID: 19946639 2009
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| 24 | DM1, DMPK, NXX2-5
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| RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
|
| Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS.
|
| Nat Genet 40(1):61-8. Epub 2007 Dec 16. 2008
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| 25 | DM1, DMPK
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| The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.
|
| Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G.
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| J Med Genet 45(10):639-46. Epub 2008 Jul 8.
2008
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| 26 | DM1, DMPK
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| Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1.
|
| Kuo HC, Hsieh YC, Wang HM, Chuang WL, Huang CC.
|
| Acta Neurol Scand 117(2):101-7.PMID: 18184345 2008
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| 27 | DM1, DMPK
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| Familial aggregation of white matter lesions in myotonic dystrophy type 1.
|
| Di Costanzo A, Santoro L, de Cristofaro M, Manganelli F, Di Salle F, Tedeschi G.
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| Neuromuscul Disord 18(4):299-305. Epub 2008 Mar 11.PMID: 18337099 2008
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| 28 | DM1, DMPK
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| Patients with primary cataract as a genetic pool of DMPK protomutation.
|
| Medica I, Teran N, Volk M, Pfeifer V, Ladavac E, Peterlin B.
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| J Hum Genet 52(2):123-8. Epub 2006 Dec 5. 2007
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| 29 | ATP2A1, DM1, DMPK
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| Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.
|
| Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, Murakami T, Chihara K, Aoki Y, Nakamori M, Takahashi MP, Imaizumi K.
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| Hum Mol Genet 16(23):2834-43. Epub 2007 Aug 29. 2007
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| 30 | CNBP, DM1, DM2, DMPK
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| Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
|
| 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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| 31 | DM1
|
| Sleep disorders in childhood-onset myotonic dystrophy type 1.
|
| Quera Salva MA, Blumen M, Jacquette A, Durand MC, Andre S, De Villiers M, Eymard B, Lofaso F, Heron D.
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| Neuromuscul Disord 16(9-10):564-70. Epub 2006 Aug 23.
2006
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| 32 | MAPT, DM1
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| Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1.
|
| Leroy O, Wang J, Maurage CA, Parent M, Cooper T, Bue L, Sergeant N, Andreadis A, Caillet-Boudin ML.
|
| Biochim Biophys Acta 1762(4):460-7. Epub 2005 Dec 29. 2006
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| 33 | CELF1, DM1
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| Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.
|
| Ho TH, Bundman D, Armstrong DL, Cooper TA.
|
| Hum Mol Genet 14(11):1539-47. Epub 2005 Apr 20. 2005
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| 34 | DMPK, DM1
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| The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions.
|
| Wojciechowska M, Bacolla A, Larson JE, Wells RD.
|
| J Biol Chem 280(2):941-52. Epub 2004 Oct 15. 2005
|
| 35 | 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
|
| Diseases of unstable repeat expansion: mechanisms and common principles.
|
| Gatchel JR, Zoghbi HY.
|
| Nat Rev Genet 6(10):743-55. Review. 2005
|
| 36 | DM1, DMPK
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| Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1.
|
| Groh WJ, Lowe MR, Simmons Z, Bhakta D, Pascuzzi RM.
|
| Muscle Nerve 31(6):719-24. 2005
|
| 37 | DM2, CNBP, DM1, DMPK
|
| Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.
|
| Maurage CA, Udd B, Ruchoux MM, Vermersch P, Kalimo H, Krahe R, Delacourte A, Sergeant N.
|
| Neurology 65(10):1636-8. 2005
|
| 38 | DM1, DM2, INSR
|
| Insulin receptor splicing alteration in myotonic dystrophy type 2.
|
| Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, Day JW.
|
| Am J Hum Genet 74(6):1309-13. Epub 2004 Apr 26. 2004
|
| 39 | DM1, DMPK
|
| Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1.
|
| Casella M, Lucarelli M, Simili M, Beffy P, Del Carratore R, Minichilli F, Chisari C, Simi S.
|
| Cytogenet Genome Res 100(1-4):224-9. 2003
|
| 40 | DM1, DM2
|
| Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2.
|
| 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.
|
| Neurology 60(11):1854-7. 2003
|
| 41 | DM1, DM2
|
| Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2.
|
| Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA.
|
| Ann Neurol 54(6):760-8. 2003
|
| 42 | DM1
|
| Defective satellite cells in congenital myotonic dystrophy.
|
| Furling D, Coiffier L, Mouly V, Barbet JP, St Guily JL, Taneja K, Gourdon G, Junien C, Butler-Browne GS.
|
| Hum Mol Genet 10(19):2079-87. 2001
|
| 43 | DM1, DMPK, MBNL1
|
| Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
|
| Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS.
|
| EMBO J 19(17):4439-4448. 2000
|
| 44 | DM1, DMPK, SIX5
|
| Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
|
| Korade-Mirnics Z, et al.
|
| Hum Mol Genet 8(6):1017-23. 1999
|
| 45 | DM1, DMWD
|
| Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat.
|
| Alwazzan M, et al.
|
| Hum Mol Genet 8(8):1491-7. 1999
|
| 46 | DM1, DMPK
|
| Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.
|
| Amack JD, Paguio AP, Mahadevan MS.
|
| Hum Mol Genet 8(11):1975-84. 1999
|
| 47 | DM1, DMPK
|
| Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n (CAG)n repeats from the myotonic dystrophy locus.
|
| Pearson CE, Wang YH, Griffith JD, Sinden RR.
|
| Nucleic Acids Res 26(3):816-23. 1998
|
| 48 | DM1
|
| Saccadic slowing in myotonic dystrophy and CTG repeat expansion.
|
| Osanai R, et al.
|
| J Neurol 245 : 674-680. 1998
|
| 49 | DM1, DMPK, DMWD, SIX5
|
| Myotonic dystrophy: molecular windows on a complex etiology.
|
| Korade-Mirnics Z, Babitzke P, Hoffman E.
|
| Nucleic Acids Res 26(6):1363-8. Review 1998
|
| 50 | DM1, FBXO46, SYMPK
|
| Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat.
|
| Alwazzan M, Hamshere MG, Lennon GG, Brook JD.
|
| Mamm Genome 9(6):485-7. No abstract available. 1998
|
| 51 | DM1
|
| Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development.
|
| Martorell L, Johnson K, Boucher CA, Baiget M.
|
| Hum Mol Genet 6(6):877-80. 1997
|
| 52 | DM1, DMPK
|
| Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
|
| Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE.
|
| Proc Natl Acad Sci U S A 94(14):7388-93. 1997
|
| 53 | DM1, DMPK
|
| Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.
|
| Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD.
|
| Proc Natl Acad Sci U S A 94(14):7394-9. 1997
|
| 54 | SIX5, DM1
|
| Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.
|
| Klesert TR, Otten AD, Bird TD, Tapscott SJ.
|
| Nat Genet 16(4):402-6. 1997
|
| 55 | DM1, DMPK
|
| Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.
|
| Yamagata H, Miki T, Nakagawa M, Johnson K, Deka R, Ogihara T.
|
| Hum Genet 97 : 145-147. 1996
|
| 56 | DM1, DMPK
|
| Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype.
|
| Bush EW, Taft CS, Meixell GE, Perryman MB.
|
| J Biol Chem 271 : 548-552. 1996
|
| 57 | DM1
|
| Segregation distortion of the CTG repeats at the myotonic dystrophy locus.
|
| Chakraborty R, et al.
|
| Am J Hum Genet 59 : 109-118. 1996
|
| 58 | DM1, DMPK
|
| Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.
|
| Ashizawa T, Monckton DG, Vaishnav S, Patel BJ, Voskova A, Caskey CT.
|
| Genomics 36 : 47-53. 1996
|
| 59 | CELF1, DM1
|
| Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy.
|
| Timchenko LT, et al.
|
| Nucleic Acids Res 24 : 4407-4414. 1996
|
| 60 | DM1
|
| A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability.
|
| Leeflang EP, et al.
|
| Hum Mol Genet 4 : 135-136. 1995
|
| 61 | DM1
|
| Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements.
|
| Wang YH, et al.
|
| Genomics 25 : 570-573. 1995
|
| 62 | DM1
|
| Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.
|
| Otten AD, et al.
|
| Proc Natl Acad Sci U S A 92 : 5465-5469. 1995
|
| 63 | DM1, SIX5, DMPK
|
| A novel homeo domain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
|
| Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al.
|
| Hum Mol Genet 4(10):1919-25. 1995
|
| 64 | DM1
|
| Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients : when does the expansion occur?
|
| Zatz M, et al.
|
| Hum Mol Genet 4 : 401-406. 1995
|
| 65 | DM1
|
| Myotonic dystrophy : evidence for a possible dominant-negative RNA mutation.
|
| Wang J, et al.
|
| Hum Mol Genet 4 : 599-606. 1995
|
| 66 | DM1, DMPK
|
| De novo myotonic dystrophy mutation in a Nigerian kindred.
|
| Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T.
|
| Am J Hum Genet 56 : 1067-1074. 1995
|
| 67 | DM1, DMPK
|
| Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.
|
| Whiting EJ, Waring JD, Tamai K, Somerville MJ, Hincke M, Staines WA, Ikeda JE, Korneluk RG.
|
| Hum Mol Genet 4 : 1063-1072. 1995
|
| 68 | DM1, DMPK
|
| Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro : evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability.
|
| Wohrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P.
|
| Hum Mol Genet 4 : 1147-1153. 1995
|
| 69 | DM1, DMPK
|
| Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.
|
| Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ.
|
| Genomics 28 : 1-14. 1995
|
| 70 | DM1, DMPK
|
| Full-length myotonin protein kinase (72 kDa) displays serine kinase activity.
|
| Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT.
|
| Proc Natl Acad Sci U S A 92 : 5366-5370. 1995
|
| 71 | DM1
|
| Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males : small pool PCR analyses.
|
| Monckton DG, et al.
|
| Hum Mol Genet 4 : 1-8. 1995
|
| 72 | DM1
|
| The 1.5-Mb region spanning the myotonic dystrophy locus shows uniform recombination frequency.
|
| Shutler GG, et al.
|
| Am J Hum Genet 54 : 104-113. 1994
|
| 73 | DM1
|
| French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.
|
| Lavedan C, et al.
|
| J Med Genet 31 : 33-36. 1994
|
| 74 | DM1
|
| Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.
|
| Ashizawa T, et al.
|
| Am J Hum Genet 54 : 414-423. 1994
|
| 75 | DM1, DMPK
|
| Detection of a premutation in Japanese myotonic dystrophy.
|
| Yamagata H, Miki T, Sakoda S, Yamanaka N, Davies J, Shelbourne P, Kubota R, Takenaga S, Nakagawa M, Ogihara T, et al.
|
| Hum Mol Genet 3 : 819-820. 1994
|
| 76 | DM1
|
| Gonosomal mosaicism in myotonic dystrophy patients : involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.
|
| Jansen G, et al.
|
| Am J Hum Genet 54 : 575-585. 1994
|
| 77 | DM1
|
| A case of paternally inherited congenital myotonic dystrophy.
|
| Nakagawa M, et al.
|
| J Med Genet 31 : 397-400. 1994
|
| 78 | DM1
|
| Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.
|
| Rubinsztein DC, et al.
|
| Hum Mol Genet 3 : 2031-2035. 1994
|
| 79 | DM1, DMPK
|
| Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.
|
| Mahadevan MS, Amemiya C, Jansen G, Sabourin L, Baird S, Neville CE, Wormskamp N, Segers B, Batzer M, Lamerdin J, et al.
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| Hum Mol Genet 2 : 299-304. 1993
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| 80 | DM1
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| Reverse mutation in myotonic dystrophy.
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| Brunner HG, et al.
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| N Engl J Med 328 : 476-480. 1993
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| 81 | DM1
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| Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.
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| Shelbourne P, et al.
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| N Engl J Med 328 : 471-475. 1993
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| 82 | DM1, DMPK
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| Myotonic dystrophy kinase is a component of neuromuscular junctions.
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| van der Ven PF, Jansen G, van Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PH, Veerkamp JH, Epstein HF, et al.
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| Hum Mol Genet 2 : 1889-1894. 1993
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| 83 | DM1
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| Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
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| Brunner HG, et al.
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| Am J Hum Genet 53 : 1016-1023. 1993
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| 84 | DM1, DMWD
|
| Genomic organization and transcriptional units at the myotonic dystrophy locus.
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| Shaw DJ, et al.
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| Genomics 18 : 673-679. 1993
|
| 85 | DM1, ATP1B1, TSPAN7, DRPLA
|
| Novel triplet repeat containing genes in human brain : cloning, expression, and length polymorphisms.
|
| Li SH, et al.
|
| Genomics 16 : 572-579. 1993
|
| 86 | DM1
|
| Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy.
|
| Mahadevan MS, et al.
|
| Genomics 15 : 446-448. 1993
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| 87 | DM1
|
| Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.
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| Harley HG, et al.
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| Am J Hum Genet 52 : 1164-1174. 1993
|
| 88 | DM1
|
| Negative expansion of the myotonic dystrophy unstable sequence.
|
| Abeliovich D, et al.
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| Am J Hum Genet 52 : 1175-1181. 1993
|
| 89 | DM1
|
| Myotonic dystrophy : size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.
|
| Lavedan C, et al.
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| Am J Hum Genet 52 : 875-883. 1993
|
| 90 | DM1, DMPK
|
| The DM mutation : diagnostic applications in the Finnish population.
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| Nokelainen P, Shelbourne P, Shaw D, Brook JD, Harley HG, Johnson K, Somer H, Savontaus ML, Peltonen L.
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| Clin Genet 43 : 190-195. 1993
|
| 91 | DM1
|
| Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters.
|
| Cobo A, et al.
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| Hum Mol Genet 2 : 711-715. 1993
|
| 92 | DM1
|
| Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.
|
| Hofmann-Radvanyi H, et al.
|
| Hum Mol Genet 2 : 1263-1266. 1993
|
| 93 | AR, HTT, DM1, FMR1
|
| Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins.
|
| Richards RI, et al.
|
| Hum Mol Genet 2 : 1429-1435. 1993
|
| 94 | DM1, DMPK
|
| Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.
|
| Carango P, Noble JE, Marks HG, Funanage VL.
|
| Genomics 18 : 340-348. 1993
|
| 95 | DM1
|
| Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.
|
| O'Hoy KL, et al.
|
| Science 259 : 809-812. 1993
|
| 96 | DM1
|
| Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child : implications for genetic counselling and genetic anticipation.
|
| Hunter AGW, et al.
|
| Am J Med Genet 45 : 401-407. 1993
|
| 97 | DM1, DMPK
|
| Molecular basis of myotonic dystrophy : expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
|
| Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al.
|
| Cell 68 : 799-808. 1992
|
| 98 | DM1
|
| Unstable DNA sequence in myotonic dystrophy.
|
| Harley HG, et al.
|
| Lancet 339 : 1125-1128. 1992
|
| 99 | DM1
|
| Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.
|
| Harley HG, et al.
|
| Nature 355 : 545-546. 1992
|
| 100 | DM1
|
| Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.
|
| Buxton J, et al.
|
| Nature 355 : 547-548. 1992
|
| 101 | DM1
|
| Cloning of the essential myotonic dystrophy region and mapping of the putative defect.
|
| Aslanidis C, et al.
|
| Nature 355 : 548-551. 1992
|
| 102 | DM1
|
| Myotonic dystrophy mutation : an unstable CTG repeat in the 3' untranslated region of the gene.
|
| Mahadevan M, et al.
|
| Science 255 : 1253-1255. 1992
|
| 103 | DM1
|
| An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
|
| Fu YH, et al.
|
| Science 255 : 1256-1258. 1992
|
| 104 | DM1
|
| Radiation-reduced hybrids for the myotonic dystrophy locus.
|
| Brook JD, et al.
|
| Genomics 13 : 243-250. 1992
|
| 105 | DM1
|
| Characterization of a YAC and cosmid contig containing markers tightly linked to the myotonic dystrophy locus on chromosome 19.
|
| Buxton J, et al.
|
| Genomics 13 : 526-531. 1992
|
| 106 | DM1
|
| Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region.
|
| Shutler G, et al.
|
| Genomics 13 : 518-525. 1992
|
| 107 | DM1
|
| Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.
|
| Jansen G, et al.
|
| Genomics 13 : 509-517. 1992
|
| 108 | DM1
|
| An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3.
|
| Lennon GG, et al.
|
| Hum Mol Genet 1 : 217. 1992
|
| 109 | D19S95, DM1
|
| Insertion/deletion polymorphism at the D19S95 associated with the myotonic dystrophy CTG repeat.
|
| Crow SR, et al.
|
| Hum Mol Genet 1 : 451. 1992
|
| 110 | DM1
|
| Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.
|
| Tsilfidis C, et al.
|
| Nat Genet 1 : 192-195. 1992
|
| 111 | DM1, DMWD
|
| Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAS.
|
| Jansen G, et al.
|
| Nat Genet 1 : 261-266. 1992
|
| 112 | DM1
|
| Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.
|
| Harley HG, et al.
|
| Hum Genet 87 : 73-80. 1991
|
| 113 | DM1
|
| Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.
|
| Harley HG, et al.
|
| Am J Hum Genet 49 : 68-75. 1991
|
| 114 | DM1
|
| Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy.
|
| Shutler G, et al.
|
| Genomics 9 : 500-504. 1991
|
| 115 | DM1
|
| Identification of new DNA markers close to the myotonic dystrophy locus.
|
| Brook JD, et al.
|
| J Med Genet 28 : 84-88. 1991
|
| 116 | DM1
|
| Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
|
| Lavedan C, et al.
|
| J Med Genet 28 : 89-91. 1991
|
| 117 | D19S117, DM1
|
| RFLP identified by the probe pKE0.6 (D19S117) at human chromosome 19q13.3.
|
| Shutler G, et al.
|
| Nucleic Acids Res 19 : 1158. 1991
|
| 118 | DM1
|
| Identification of variable simple sequence motifs in 19q13.2-qter : markers for the myotonic dystrophy locus.
|
| Smeets HJM, et al.
|
| Genomics 9 : 257-263. 1991
|
| 119 | DM1
|
| Establishment of the mouse chromosome 7 region with homology to the myotonic dystrophy region of human chromosome 19q.
|
| Cavanna JS, et al.
|
| Genomics 7 : 12-18. 1990
|
| 120 | D19S51, APOC2, BCL3, CKM, CYP2@, DM1
|
| A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.
|
| Johnson K, et al.
|
| Am J Hum Genet 46 : 1073-1081. 1990
|
| 121 | DM1
|
| Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy.
|
| Walsh KV, et al.
|
| Hum Genet 85 : 305-310. 1990
|
| 122 | DM1
|
| Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region.
|
| Schonk D, et al.
|
| Cytogenet Cell Genet 54 : 15-19. 1990
|
| 123 | DM1
|
| The locus for Japanese myotonic dystrophy is also linked to D19S19 on the long arm of chromosome 19.
|
| Takemoto Y, et al.
|
| Genomics 6 : 195-196. 1990
|
| 124 | DM1
|
| A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy.
|
| Korneluk RG, MacLeod HL, McKeithan TW, Brooks JD, MacKenzie AE.
|
| Genomics 4 : 146-151. 1989
|
| 125 | DM1
|
| Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q.
|
| Schonk D, et al.
|
| Genomics 4 : 384-396. 1989
|
| 126 | DM1
|
| Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.
|
| Johnson K, et al.
|
| Genomics 5 : 746-751. 1989
|
| 127 | DM1
|
| Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.
|
| Smeets HJM, et al.
|
| Hum Genet 83 : 245-251. 1989
|
| 128 | DM1
|
| A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus.
|
| Korneluk RG, et al.
|
| Genomics 5 : 596-604. 1989
|
| 129 | DM1
|
| A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19.
|
| Brunner HG, Smeets H, Lambermon HM, Coerwinkel-Driessen M, van Oost BA, Wieringa B, Ropers HH.
|
| Genomics 5 : 589-595. 1989
|
| 130 | DM1, APOC2, D19S19
|
| Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q.
|
| Johnson K, Nimmo E, Jones P, Weiss M, Savontaus ML, Anvret M, Bartlett R, Roses A, Shaw D, Harper PS, et al.
|
| Hum Genet 80 : 379-381. 1988
|
| 131 | DM1
|
| Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides.
|
| Smeets B, et al.
|
| Hum Genet 80 : 49-52. 1988
|
| 132 | DM1, D19S19
|
| A new probe for the diagnosis of myotonic muscular dystrophy.
|
| Bartlett RJ, et al.
|
| Science 235 : 1648-1650. 1987
|
| 133 | DM1
|
| The use of apolipoprotein CII as a genetic marker for myotonic dystrophy.
|
| Bird TD, et al.
|
| Arch Neurol 44 : 273-275. 1987
|
| 134 | DM1, D19S7, BCAM, MSK37, PVR
|
| Further mapping of markers around the centromere of human chromosome 19.
|
| Brook JD, et al.
|
| Genomics 1 : 320-328. 1987
|
| 135 | DM1
|
| Toward early diagnosis of myotonic dystrophy : construction and chraracterization of a somatic cell hybrid with a single human der(19) chromosome.
|
| Hulsebos T, et al.
|
| Cytogenet Cell Genet 43 : 47-56. 1986
|
| 136 | DM1
|
| Tight linkage of apolipoprotein-C2 to myotonic dystrophy on chromosome 19.
|
| Pericak-Vance MA, et al.
|
| Neurology 36 : 1418-1423. 1986
|
| 137 | DM1, D19S7, D19S8, D19S9
|
| Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19.
|
| Shaw DJ, et al.
|
| Hum Genet 74 : 262-266. 1986
|
| 138 | D19S19, DM1
|
| RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM).
|
| Roses AD, et al.
|
| Nucleic Acids Res 14 : 5569. 1986
|
| 139 | DM1, APOC2
|
| The apolipoprotein CII gene : subchromosomal localisation and linkage to the myotonic dystrophy locus.
|
| Shaw DJ, et al.
|
| Hum Genet 70 : 271-273. 1985
|
| 140 | DM1
|
| Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe.
|
| Davies KE, et al.
|
| J Med Genet 20 : 259-263. 1983
|
| 141 | DM1, PEPD
|
| Genetic linkage between the loci for myotonic dystrophy and peptidase D.
|
| O'Brien T, et al.
|
| Ann Hum Genet 47 : 117-121. 1983
|
| 142 | DM1, FUT2, BCAM
|
| Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion.
|
| Renwick JH, et al.
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| J Med Genet 8 : 407-416. 1971
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| 143 | DM1, DMPK
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| CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
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