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Journal Abstract Search

544 related items for PubMed ID: 20080938

  • 1. 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; 2010 Apr 15; 19(8):1399-412. PubMed ID: 20080938
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  • 5. Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1.
    Pan H, Lin HM, Ku WY, Li TC, Li SY, Lin CC, Hsiao KM.
    Eur J Hum Genet; 2001 Aug 15; 9(8):638-41. PubMed ID: 11528511
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  • 6. Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history.
    Savić D, Keckarević D, Branković-Srećković V, Apostolski S, Todorović S, Romac S.
    Int J Neurosci; 2006 Dec 15; 116(12):1509-18. PubMed ID: 17145685
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  • 8. Myotonic dystrophies.
    Huang CC, Kuo HC.
    Chang Gung Med J; 2005 Aug 15; 28(8):517-26. PubMed ID: 16265841
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  • 12. Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism.
    Tomé S, Dandelot E, Dogan C, Bertrand A, Geneviève D, Péréon Y, DM contraction study groupPauline Arnaud: Department of genetic, Bichat Hospital, Paris, France, Raphaële Chasserieau: Centre for Neuromuscular Diseases, Hôtel-Dieu Hospital, Nantes, France, Pascal Cintas: Neuromuscular Reference Center, Purpan Hospital, Toulouse, France, Ana-maria Cobo Esteban: Neuromuscular Reference Center, Marin Hospital, Hendaye, France, Marie-Carmen Cruz: Neuromuscular Reference Center, Purpan Hospital, Toulouse, France, Dalil Hamroun: Centre Hospitalo-Universitaire de Montpellier, Montpellier, France, Armelle Magot: Neuromuscular Reference Center, Hôtel-Dieu Hospital, Nantes, France, Alexandra Nadaj-Pakleza Neuromuscular Reference Center, Larrey Hospital, Angers, France, Anne-catherine Aube-Gauthier Neuromuscular Reference Center, Larrey Hospital, Angers, France, Andoni Urtizberea: Neuromuscular Reference Center, Marin Hospital, Hendaye, France., Simon M, Bonnefont JP, Bassez G, Gourdon G.
    Hum Mutat; 2018 Jul 15; 39(7):970-982. PubMed ID: 29664219
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  • 14. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
    Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B, Scottish Myotonic Dystrophy Consortium, Warner J, Farrugia ME, Longman C, Monckton DG.
    Eur J Hum Genet; 2018 Nov 15; 26(11):1635-1647. PubMed ID: 29967337
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  • 16. Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
    Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS.
    Korean J Lab Med; 2008 Dec 15; 28(6):483-92. PubMed ID: 19127114
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  • 20. Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles.
    Botta A, Rossi G, Marcaurelio M, Fontana L, D'Apice MR, Brancati F, Massa R, G Monckton D, Sangiuolo F, Novelli G.
    Eur J Hum Genet; 2017 Feb 15; 25(2):257-261. PubMed ID: 27876818
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