(Q47194897)

11 January 2018

title

250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. (English)

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11 January 2018

author name string

Dusanka Savić

1

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11 January 2018

Vidosava Rakocvic-Stojanovic

2

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11 January 2018

Dusan Keckarevic

3

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11 January 2018

Biljana Culjkovic

4

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11 January 2018

Oliver Stojkovic

5

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11 January 2018

Jelena Mladenovic

6

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11 January 2018

Slobodanka Todorovic

7

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11 January 2018

Slobodan Apostolski

8

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11 January 2018

Stanka Romac

9

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11 January 2018

publication date

1 February 2002

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11 January 2018

published in

Human Mutation

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11 January 2018

volume

19

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11 January 2018

issue

2

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11 January 2018

page(s)

131-139

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11 January 2018

Somatic instability of CTG repeat in myotonic dystrophy

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10027

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

21 January 2018

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Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 January 2018

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Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

21 January 2018

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Age and causes of death in adult-onset myotonic dystrophy

21 January 2018

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Personality patterns in patients with myotonic dystrophy.

21 January 2018

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Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability.

21 January 2018

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An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

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Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

21 January 2018

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Anticipation in myotonic dystrophy: fact or fiction?

21 January 2018

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Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy

21 January 2018

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Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat

21 January 2018

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Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

21 January 2018

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Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

21 January 2018

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Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

21 January 2018

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

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Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.

21 January 2018

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Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1.

21 January 2018

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Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure

21 January 2018

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Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

21 January 2018

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Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

21 January 2018

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The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat

21 January 2018

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Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues

21 January 2018

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Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

21 January 2018

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Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

21 January 2018

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(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

21 January 2018

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Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

21 January 2018

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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10027

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

21 January 2018

1 reference

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Fast and sensitive silver staining of DNA in polyacrylamide gels

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10027

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

21 January 2018

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New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10027

Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat

21 January 2018

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Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.10027

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10027

21 January 2018

Identifiers

DOI

10.1002/HUMU.10027

1 reference

11 January 2018

1 reference

11 January 2018