Citations for
1DM1, MBNL1, MBNL2
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.
Furuta M, Kimura T, Nakamori M, Matsumura T, Fujimura H, Jinnai K, Takahashi MP, Mochizuki H, Yoshikawa H.
Neuroreport 29(3):235-240. doi: 10.1097/WNR.0000000000000968. 2018
2DM1, MBNL1
Design of a "Mini" Nucleic Acid Probe for Cooperative Binding of an RNA-Repeated Transcript Associated with Myotonic Dystrophy Type 1.
Hsieh WC, Bahal R, Thadke SA, Bhatt K, Sobczak K, Thornton C, Ly DH.
Biochemistry 57(6):907-911. doi: 10.1021/acs.biochem.7b01239. Epub 2018 Jan 19. 2018
3DM1, MBNL1
Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X.
Invest Ophthalmol Vis Sci 58(11):4579-4585. doi: 10.1167/iovs.17-22350. 2017
4DM1, DMPK
Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients.
Ravel-Chapuis A, Gunnewiek AK, Bélanger G, Parks TE, Côté J, Jasmin BJ.
Mol Biol Cell ol Biol Cell. 2016 Mar 30. pii: mbc.E15-06-0356. [Epub ahead of print] 2016
5DM1, STAU1
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.
PLoS Genet 12(1):e1005827. doi: 10.1371/journal.pgen.1005827. eCollection 2016 Jan. 2016
6CELF1, DM1, DM2
Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2.
Cardani R, Bugiardini E, Renna LV, Rossi G, Colombo G, Valaperta R, Novelli G, Botta A, Meola G.
PLoS One 8(12):e83777. doi: 10.1371/journal.pone.0083777. 2013
7DM1, DMPK
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.
J Mol Diagn 15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13. 2013
8DM1
Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.
Santoro M, Masciullo M, Pietrobono R, Conte G, Modoni A, Bianchi ML, Rizzo V, Pomponi MG, Tasca G, Neri G, Silvestri G.
J Neurol 260(5):1245-57. doi: 10.1007/s00415-012-6779-9. Epub 2012 Dec 23. 2013
9DM1, MBNL2
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.
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.
Neuron 75(3):437-50. doi: 10.1016/j.neuron.2012.05.029. 2012
10DM1, DMPK
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
11DM1, DMPK
Altered replication in human cells promotes DMPK (CTG)(n) ˇ (CAG)(n) repeat instability.
Liu G, Chen X, Gao Y, Lewis T, Barthelemy J, Leffak M.
Mol Cell Biol 32(9):1618-32. doi: 10.1128/MCB.06727-11. Epub 2012 Feb 21. 2012
12DM1, DMPK
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
13ACTN2, DM1, PDLIM3
Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
Biochem Biophys Res Commun 409(1):64-9. Epub 2011 Apr 28. 2011
14DM1, SPEN
RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP.
Dansithong W, Jog SP, Paul S, Mohammadzadeh R, Tring S, Kwok Y, Fry RC, Marjoram P, Comai L, Reddy S.
EMBO Rep 12(7):735-42. doi: 10.1038/embor.2011.86. 2011
15CNBP, DM1, DM2, DMPK
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges.
Sicot G, Gourdon G, Gomes-Pereira M.
Hum Mol Genet 20(R2):R116-23. doi: 10.1093/hmg/ddr343. Epub 2011 Aug 5. Review. 2011
16DM1, MBNL1
Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.
Paul S, Dansithong W, Jog SP, Holt I, Mittal S, Brook JD, Morris GE, Comai L, Reddy S.
J Biol Chem 286(44):38427-38. doi: 10.1074/jbc.M111.255224. Epub 2011 Sep 7. 2011
17CELF1, DM1, DMPK, MBNL1
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.
Hum Mol Genet 19(6):1066-75. Epub 2010 Jan 5. 2010
18DM1, DMPK
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.
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.
Hum Mol Genet 19(8):1399-412. Epub 2010 Jan 15.PMID: 20080938 2010
19DM1, DMPK
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.
Nat Struct Mol Biol 17(9):1079-87. Epub 2010 Aug 15. 2010
20DM1, DM2, LDB3
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
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.
Acta Neuropathol 119(4):465-79. doi: 10.1007/s00401-010-0637-6. Epub 2010 Jan 12. 2010
21DM1, DMPK, MBNL1
A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.
Arambula JF, Ramisetty SR, Baranger AM, Zimmerman SC.
Proc Natl Acad Sci U S A 106(38):16068-73. Epub 2009 Sep 8.PMID: 19805260 2009
22CNBP, DM1, DM2
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.
Neurobiol Dis 36(1):181-90. Epub 2009 Jul 24.PMID: 19632331 2009
23DM1, DMPK
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.
PLoS One 4(11):e8024.PMID: 19946639 2009
24DM1, DMPK, NXX2-5
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
25DM1, DMPK
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.
J Med Genet 45(10):639-46. Epub 2008 Jul 8. 2008
26DM1, DMPK
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
27DM1, DMPK
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.
Neuromuscul Disord 18(4):299-305. Epub 2008 Mar 11.PMID: 18337099 2008
28DM1, DMPK
Patients with primary cataract as a genetic pool of DMPK protomutation.
Medica I, Teran N, Volk M, Pfeifer V, Ladavac E, Peterlin B.
J Hum Genet 52(2):123-8. Epub 2006 Dec 5. 2007
29ATP2A1, DM1, DMPK
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.
Hum Mol Genet 16(23):2834-43. Epub 2007 Aug 29. 2007
30CNBP, DM1, DM2, DMPK
Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
Cho DH, Tapscott SJ.
Biochim Biophys Acta 1772(2):195-204. Epub 2006 Jun 20. Review. 2007
31DM1
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.
Neuromuscul Disord 16(9-10):564-70. Epub 2006 Aug 23. 2006
32MAPT, DM1
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, BuŽe L, Sergeant N, Andreadis A, Caillet-Boudin ML.
Biochim Biophys Acta 1762(4):460-7. Epub 2005 Dec 29. 2006
33CELF1, DM1
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
34DMPK, DM1
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
35FXN, 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
36DM1, DMPK
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
37DM2, 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
38DM1, 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
39DM1, 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
40DM1, 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
41DM1, 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
42DM1
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
43DM1, 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
44DM1, 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
45DM1, 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
46DM1, 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
47DM1, 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
48DM1
Saccadic slowing in myotonic dystrophy and CTG repeat expansion.
Osanai R, et al.
J Neurol 245 : 674-680. 1998
49DM1, 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
50DM1, 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
51DM1
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
52DM1, 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
53DM1, 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
54SIX5, 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
55DM1, 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
56DM1, 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
57DM1
Segregation distortion of the CTG repeats at the myotonic dystrophy locus.
Chakraborty R, et al.
Am J Hum Genet 59 : 109-118. 1996
58DM1, 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
59CELF1, 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
60DM1
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
61DM1
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
62DM1
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
63DM1, 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
64DM1
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
65DM1
Myotonic dystrophy : evidence for a possible dominant-negative RNA mutation.
Wang J, et al.
Hum Mol Genet 4 : 599-606. 1995
66DM1, 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
67DM1, 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
68DM1, 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
69DM1, 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
70DM1, 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
71DM1
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
72DM1
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
73DM1
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
74DM1
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.
Ashizawa T, et al.
Am J Hum Genet 54 : 414-423. 1994
75DM1, 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
76DM1
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
77DM1
A case of paternally inherited congenital myotonic dystrophy.
Nakagawa M, et al.
J Med Genet 31 : 397-400. 1994
78DM1
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
79DM1, 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.
Hum Mol Genet 2 : 299-304. 1993
80DM1
Reverse mutation in myotonic dystrophy.
Brunner HG, et al.
N Engl J Med 328 : 476-480. 1993
81DM1
Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker.
Shelbourne P, et al.
N Engl J Med 328 : 471-475. 1993
82DM1, DMPK
Myotonic dystrophy kinase is a component of neuromuscular junctions.
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.
Hum Mol Genet 2 : 1889-1894. 1993
83DM1
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
Brunner HG, et al.
Am J Hum Genet 53 : 1016-1023. 1993
84DM1, DMWD
Genomic organization and transcriptional units at the myotonic dystrophy locus.
Shaw DJ, et al.
Genomics 18 : 673-679. 1993
85DM1, 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
86DM1
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
87DM1
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.
Harley HG, et al.
Am J Hum Genet 52 : 1164-1174. 1993
88DM1
Negative expansion of the myotonic dystrophy unstable sequence.
Abeliovich D, et al.
Am J Hum Genet 52 : 1175-1181. 1993
89DM1
Myotonic dystrophy : size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.
Lavedan C, et al.
Am J Hum Genet 52 : 875-883. 1993
90DM1, DMPK
The DM mutation : diagnostic applications in the Finnish population.
Nokelainen P, Shelbourne P, Shaw D, Brook JD, Harley HG, Johnson K, Somer H, Savontaus ML, Peltonen L.
Clin Genet 43 : 190-195. 1993
91DM1
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters.
Cobo A, et al.
Hum Mol Genet 2 : 711-715. 1993
92DM1
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
93AR, 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
94DM1, 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
95DM1
Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.
O'Hoy KL, et al.
Science 259 : 809-812. 1993
96DM1
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
97DM1, 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
98DM1
Unstable DNA sequence in myotonic dystrophy.
Harley HG, et al.
Lancet 339 : 1125-1128. 1992
99DM1
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.
Harley HG, et al.
Nature 355 : 545-546. 1992
100DM1
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.
Buxton J, et al.
Nature 355 : 547-548. 1992
101DM1
Cloning of the essential myotonic dystrophy region and mapping of the putative defect.
Aslanidis C, et al.
Nature 355 : 548-551. 1992
102DM1
Myotonic dystrophy mutation : an unstable CTG repeat in the 3' untranslated region of the gene.
Mahadevan M, et al.
Science 255 : 1253-1255. 1992
103DM1
An unstable triplet repeat in a gene related to myotonic muscular dystrophy.
Fu YH, et al.
Science 255 : 1256-1258. 1992
104DM1
Radiation-reduced hybrids for the myotonic dystrophy locus.
Brook JD, et al.
Genomics 13 : 243-250. 1992
105DM1
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
106DM1
Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region.
Shutler G, et al.
Genomics 13 : 518-525. 1992
107DM1
Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q.
Jansen G, et al.
Genomics 13 : 509-517. 1992
108DM1
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
109D19S95, DM1
Insertion/deletion polymorphism at the D19S95 associated with the myotonic dystrophy CTG repeat.
Crow SR, et al.
Hum Mol Genet 1 : 451. 1992
110DM1
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.
Tsilfidis C, et al.
Nat Genet 1 : 192-195. 1992
111DM1, DMWD
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAS.
Jansen G, et al.
Nat Genet 1 : 261-266. 1992
112DM1
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
113DM1
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
114DM1
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
115DM1
Identification of new DNA markers close to the myotonic dystrophy locus.
Brook JD, et al.
J Med Genet 28 : 84-88. 1991
116DM1
Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
Lavedan C, et al.
J Med Genet 28 : 89-91. 1991
117D19S117, DM1
RFLP identified by the probe pKE0.6 (D19S117) at human chromosome 19q13.3.
Shutler G, et al.
Nucleic Acids Res 19 : 1158. 1991
118DM1
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
119DM1
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
120D19S51, 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
121DM1
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
122DM1
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
123DM1
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
124DM1
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
125DM1
Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q.
Schonk D, et al.
Genomics 4 : 384-396. 1989
126DM1
Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.
Johnson K, et al.
Genomics 5 : 746-751. 1989
127DM1
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
128DM1
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
129DM1
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
130DM1, 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
131DM1
Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides.
Smeets B, et al.
Hum Genet 80 : 49-52. 1988
132DM1, D19S19
A new probe for the diagnosis of myotonic muscular dystrophy.
Bartlett RJ, et al.
Science 235 : 1648-1650. 1987
133DM1
The use of apolipoprotein CII as a genetic marker for myotonic dystrophy.
Bird TD, et al.
Arch Neurol 44 : 273-275. 1987
134DM1, D19S7, BCAM, MSK37, PVR
Further mapping of markers around the centromere of human chromosome 19.
Brook JD, et al.
Genomics 1 : 320-328. 1987
135DM1
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
136DM1
Tight linkage of apolipoprotein-C2 to myotonic dystrophy on chromosome 19.
Pericak-Vance MA, et al.
Neurology 36 : 1418-1423. 1986
137DM1, 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
138D19S19, 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
139DM1, APOC2
The apolipoprotein CII gene : subchromosomal localisation and linkage to the myotonic dystrophy locus.
Shaw DJ, et al.
Hum Genet 70 : 271-273. 1985
140DM1
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
141DM1, PEPD
Genetic linkage between the loci for myotonic dystrophy and peptidase D.
O'Brien T, et al.
Ann Hum Genet 47 : 117-121. 1983
142DM1, FUT2, BCAM
Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion.
Renwick JH, et al.
J Med Genet 8 : 407-416. 1971
143DM1, DMPK
1.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, W arbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, We