(Q50767176)

English

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.

scientific article published in November 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

Andreas Weinhaeusel

1

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

Stilianos Antonarakis

3

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

author name string

Michael A Morris

2

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

Oskar A Haas

4

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

publication date

1 November 2003

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

22

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

5

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

404-408

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

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The fragile X premutation: into the phenotypic fold

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Unverricht-Lundborg disease with cystatin B gene abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Instability of the EPM1 minisatellite

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10276

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10276

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/14517952

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