(Q33836050)

29 July 2017

title

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

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29 July 2017

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B Schoser

2

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Hanns Lochmüller

object named as

H Lochmüller

7

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author name string

T Suominen

1

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29 July 2017

O Raheem

3

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29 July 2017

S Auvinen

4

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29 July 2017

M Walter

5

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29 July 2017

R Krahe

6

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29 July 2017

W Kress

8

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29 July 2017

B Udd

9

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29 July 2017

publication date

24 September 2008

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29 July 2017

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29 July 2017

volume

255

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29 July 2017

issue

11

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29 July 2017

page(s)

1731-1736

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-008-0010-z

29 July 2017

exact match

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cites work

Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Myotonic dystrophy: emerging mechanisms for DM1 and DM2.

28 July 2018

1 reference

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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

The skeletal muscle chloride channel in dominant and recessive human myotonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

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

28 July 2018

1 reference

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Founder mutations and the high prevalence of myotonia congenita in northern Finland

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-008-0010-Z

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-008-0010-Z

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Insulin receptor splicing alteration in myotonic dystrophy type 2.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Myotonic dystrophy: RNA pathogenesis comes into focus

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Myotonia congenita in northern Finland: an epidemiological and genetic study

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4079033

Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

29 October 2018

1 reference

12 December 2020

1 reference

12 December 2020

Electrical myotonia in heterozygous carriers of recessive myotonia congenita

1 reference

12 December 2020

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia

1 reference

12 December 2020

10.1007/S00415-008-0010-Z

Identifiers

DOI

1 reference

Dimensions Publication ID

29 July 2017

1000396779

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Fatcat ID

release_52wptnupszd7hnignegkrmhzj4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/52wptnupszd7hnignegkrmhzj4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4079033

1 reference

29 July 2017

1 reference