Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. (Q52943915)

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scientific article published in October 2002

Language	Label	Description	Also known as
English	Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1.	scientific article published in October 2002

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

myotonic dystrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Claudia Abbruzzese

object named as

Claudia Abbruzzese

1

0 references

Darren G Monckton

object named as

Darren G Monckton

6

0 references

author name string

Sandro Costanzi Porrini

2

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

Bruno Mariani

3

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

Fiona K Gould

4

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

John P McAbney

5

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

Tetsuo Ashizawa

7

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

Manlio Giacanelli

8

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

publication date

1 October 2002

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

Annals of Neurology

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

52

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

4

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

435-441

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

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

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Frequency and stability of the myotonic dystrophy type 1 premutation.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Somatic instability of CTG repeat in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Dominance and homozygosity

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

On the origin of multiple mutations in human cancers

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Complex gene conversion events in germline mutation at human minisatellites

1 reference

https://api.crossref.org/works/10.1002%2FANA.10304

21 January 2018

Identifiers

10.1002/ANA.10304

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 May 2018

http://europepmc.org/abstract/MED/12325072

ResearchGate publication ID

0 references

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