DOI: 10.1016/j.nmd.2009.07.012. Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2

Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2

10.1016/j.nmd.2009.07.012

Crossref journal-article

Elsevier BV

Neuromuscular Disorders (78)

Bibliography

Nakamori, M., Sobczak, K., Moxley, R. T., & Thornton, C. A. (2009). Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2. Neuromuscular Disorders, 19(11), 759â762.

Authors 4

Masayuki Nakamori (first)
Krzysztof Sobczak (additional)
Richard T. Moxley (additional)
Charles A. Thornton (additional)

References 18 Referenced 21

10.1016/0092-8674(92)90154-5 / Cell / Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member by Brook (1992)
10.1126/science.1062125 / Science / Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9 by Liquori (2001)
{'key': '10.1016/j.nmd.2009.07.012_bib3', 'first-page': '1164', 'article-title': 'Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy', 'volume': '52', 'author': 'Harley', 'year': '1993', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy by Harley (1993)
{'key': '10.1016/j.nmd.2009.07.012_bib4', 'first-page': '114', 'article-title': 'Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent', 'volume': '56', 'author': 'Wong', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent by Wong (1995)
10.1093/hmg/7.2.307 / Hum Mol Genet / Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients by Martorell (1998)
10.1212/WNL.43.12.2674 / Neurology / Somatic instability of CTG repeat in myotonic dystrophy by Ashizawa (1993)
10.1093/hmg/2.9.1397 / Hum Mol Genet / Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy by Anvret (1993)
10.1002/ana.410350116 / Ann Neurol / Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes by Thornton (1994)
10.1093/hmg/4.3.401 / Hum Mol Genet / Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur? by Zatz (1995)
10.1002/(SICI)1098-1004(1996)7:4<304::AID-HUMU3>3.0.CO;2-8 / Hum Mutat / Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR by Cheng (1996)
10.1034/j.1399-0004.2000.570112.x / Clin Genet / Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy by Marchini (2000)
10.1212/01.WNL.0000054481.84978.F9 / Neurology / Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum by Day (2003)
10.1093/hmg/1.7.467 / Hum Mol Genet / Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype by Shelbourne (1992)
10.1016/S0167-7799(02)00038-0 / Trends Biotechnol / LNA: a versatile tool for therapeutics and genomics by Petersen (2003)
10.1007/s00216-009-2821-x / Anal Bioanal Chem / Enhanced recognition of non-complementary hybridization by single-LNA-modified oligonucleotide probes by Piao (2009)
10.1093/nar/gkn025 / Nucleic Acids Res / Cell-free cloning of highly expanded CTG repeats by amplification of dimerized expanded repeats by Osborne (2008)
10.1136/jmg.33.12.1022 / J Med Genet / A general method for the detection of large CAG repeat expansions by fluorescent PCR by Warner (1996)
10.1002/ajmg.a.32987 / Am J Med Genet A / Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene by Musova (2009)

Dates

Type	When
Created	16 years ago (Aug. 27, 2009, 12:54 a.m.)
Deposited	6 years, 8 months ago (Dec. 17, 2018, 5:55 a.m.)
Indexed	2 months ago (July 3, 2025, 1:23 a.m.)
Issued	15 years, 10 months ago (Nov. 1, 2009)
Published	15 years, 10 months ago (Nov. 1, 2009)
Published Print	15 years, 10 months ago (Nov. 1, 2009)

Funders 0

None

BibTeX

@article{Nakamori_2009, title={Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2}, volume={19}, ISSN={0960-8966}, url={http://dx.doi.org/10.1016/j.nmd.2009.07.012}, DOI={10.1016/j.nmd.2009.07.012}, number={11}, journal={Neuromuscular Disorders}, publisher={Elsevier BV}, author={Nakamori, Masayuki and Sobczak, Krzysztof and Moxley, Richard T. and Thornton, Charles A.}, year={2009}, month=nov, pages={759–762} }

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