(Q34627289)

3 August 2017

title

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland (English)

1 reference

3 August 2017

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Corrado Angelini

6

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Leena Peltonen-Palotie

7

object named as

Leena Peltonen

1 reference

3 August 2017

Tiina Suominen

1

1 reference

3 August 2017

Linda L Bachinski

2

1 reference

3 August 2017

Satu Auvinen

3

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3 August 2017

Peter Hackman

4

1 reference

3 August 2017

Keith A Baggerly

5

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3 August 2017

Ralf Krahe

8

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3 August 2017

Bjarne Udd

9

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3 August 2017

publication date

2 March 2011

1 reference

European Journal of Human Genetics

3 August 2017

number of pages

7

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published in

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3 August 2017

volume

19

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3 August 2017

issue

7

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3 August 2017

page(s)

776-782

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.23

3 August 2017

exact match

0 references

cites work

Premutation allele pool in myotonic dystrophy type 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Epidemiology of myotonic dystrophy type 1 (Steinert disease) in Belgrade (Serbia).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Clinical and molecular aspects of the myotonic dystrophies: a review.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Sudden cardiac death in myotonic dystrophy type 2.

7 July 2018

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Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

Genetic epidemiology of myotonic dystrophy in Istria, Croatia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

A general method for the detection of large CAG repeat expansions by fluorescent PCR

7 July 2018

1 reference

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Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

7 July 2018

1 reference

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MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3137497

7 July 2018

Epithelial morphogenesis

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Epidemiological and genetic studies of myotonic dystrophy type 1 in Taiwan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.23

This Month in Archives of Neurology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.23

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2011.23

Microsatellite instability (MSI) increases with age in normal somatic cells.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2011.23

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.23

Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions

21 January 2018

1 reference

12 December 2020

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

1 reference

12 December 2020

Ethnic distribution of myotonic dystrophy gene

1 reference

12 December 2020

The epidemiology of myotonic dystrophy in Northern Ireland

1 reference

12 December 2020

Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Origin and Diffusion of the Myotonic Dystrophy Gene in the Saguenay Region (Quebec)

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.23

1 reference

3 August 2017

1 reference

3 August 2017

1 reference