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Journal Abstract Search

255 related items for PubMed ID: 32063450

  • 41. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.
    Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A.
    Clin Genet; 2017 Oct; 92(4):355-364. PubMed ID: 27991661
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  • 42. Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench.
    Kato K, Makiyama T, Wu J, Ding WG, Kimura H, Naiki N, Ohno S, Itoh H, Nakanishi T, Matsuura H, Horie M.
    J Cardiovasc Electrophysiol; 2014 Jan; 25(1):66-73. PubMed ID: 24112685
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  • 44. Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.
    Li S, Fraser S, Ranpura G, Lim S, Singer ES, Parker JDK, Crowe J, Bagnall RD, Laksman Z, Semsarian C.
    Stem Cell Res; 2023 Sep; 71():103153. PubMed ID: 37385135
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  • 45. Molecular biology and cellular mechanisms of Brugada and long QT syndromes in infants and young children.
    Antzelevitch C.
    J Electrocardiol; 2001 Sep; 34 Suppl():177-81. PubMed ID: 11781953
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  • 47. Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.
    de Pontual L, Tomé S.
    Int J Mol Sci; 2022 Mar 23; 23(7):. PubMed ID: 35408837
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  • 48. 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 23; 9(8):638-41. PubMed ID: 11528511
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  • 50. Severity of cardiac conduction involvement and arrhythmias in myotonic dystrophy type 1 correlates with age and CTG repeat length.
    Groh WJ, Lowe MR, Zipes DP.
    J Cardiovasc Electrophysiol; 2002 May 23; 13(5):444-8. PubMed ID: 12030525
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  • 51. Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study.
    Dello Russo A, Mangiola F, Della Bella P, Nigro G, Melacini P, Bongiorni MG, Tondo C, Calò L, Messano L, Pace M, Pelargonio G, Casella M, Sanna T, Silvestri G, Modoni A, Zachara E, Moltrasio M, Morandi L, Nigro G, Politano L, Palladino A, Bellocci F.
    J Cardiovasc Med (Hagerstown); 2009 Jan 23; 10(1):51-8. PubMed ID: 19708226
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  • 52. Analysis of repetitive regions in myotonic dystrophy type 1 and 2.
    Carson NL.
    Curr Protoc Hum Genet; 2009 Apr 23; Chapter 9():Unit 9.6. PubMed ID: 19360700
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  • 54. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.
    Orpana AK, Ho TH, Alagrund K, Ridanpää M, Aittomäki K, Stenman J.
    J Mol Diagn; 2013 Jan 23; 15(1):110-5. PubMed ID: 23159592
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  • 60. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy.
    Furling D, Lam le T, Agbulut O, Butler-Browne GS, Morris GE.
    Am J Pathol; 2003 Mar 23; 162(3):1001-9. PubMed ID: 12598332
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