(Q34385111)

English

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.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

progressive myoclonus epilepsy

1 reference

based on heuristic

inferred from title

Stilianos Antonarakis

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Hamish S. Scott

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Lalioti MD

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Genton P

3

1 reference

Europe PubMed Central

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10 November 2019

Grid D

4

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Europe PubMed Central

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10 November 2019

Ouazzani R

5

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M'Rabet A

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Ibrahim S

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Gouider R

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Dravet C

9

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Europe PubMed Central

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10 November 2019

Chkili T

10

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Bottani A

11

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Buresi C

12

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Malafosse A

13

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10 November 2019

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publication date

1 April 1998

1 reference

Europe PubMed Central

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10 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

62

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

842-847

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Trinucleotide repeats in neurogenetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

The cystatins: Protein inhibitors of cysteine proteinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Dynamic mutations: a new class of mutations causing human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

6 July 2018

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377038

27 October 2018

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trinucleotide repeat expansion and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

What is expanded in progressive myoclonus epilepsy?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identical genetic locus for Baltic and Mediterranean myoclonus

1 reference

https://pubmed.ncbi.nlm.nih.gov/9529356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

release_c53dg535wbappfswy4m7ivjneu

1 reference

https://api.fatcat.wiki/v0/release/c53dg535wbappfswy4m7ivjneu

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9529356%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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