Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy (Q48050907)

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scientific article published in April 1997

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Language	Label	Description	Also known as
English	Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy	scientific article published in April 1997

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

title

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

author name string

Lalioti MD

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Scott HS

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Buresi C

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Rossier C

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Bottani A

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Morris MA

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Malafosse A

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Antonarakis SE

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

language of work or name

English

0 references

publication date

1 April 1997

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

published in

Nature

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

volume

386

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

issue

6627

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

page(s)

847-851

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

cites work

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus.

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2F386847A0

retrieved

7 January 2021

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inferred from DOI database lookup

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

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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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

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

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7 January 2021

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The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

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7 January 2021

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Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene

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7 January 2021

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Trinucleotide repeats in neurogenetic disorders

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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Trinucleotide repeat expansion and human disease

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Crossref

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7 January 2021

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Dynamic mutations: a new class of mutations causing human disease

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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inferred from DOI database lookup

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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inferred from DOI database lookup

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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The cystatins: Protein inhibitors of cysteine proteinases

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

retrieved

7 January 2021

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inferred from DOI database lookup

Absence of expression of the FMR-1 gene in fragile X syndrome

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the gene FMR2, associated with FRAXE mental retardation

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

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7 January 2021

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Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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inferred from DOI database lookup

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

based on heuristic

inferred from DOI database lookup

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

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Crossref

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https://api.crossref.org/works/10.1038%2F386847A0

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7 January 2021

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Regulation of MHC class II genes: lessons from a disease

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https://api.crossref.org/works/10.1038%2F386847A0

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Transcriptional repression of eukaryotic promoters

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Transcriptional inhibition of the murine erythropoietin receptor gene by an upstream repetitive element

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Families of cysteine peptidases.

1 reference

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ICE-related proteases in apoptosis.

1 reference

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Isolation and characterization of the mouse cystatin B gene

1 reference

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Crossref

reference URL

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retrieved

7 January 2021

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inferred from DOI database lookup

Identifiers

DOI

10.1038/386847A0

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

Dimensions Publication ID

1026091387

0 references

PubMed publication ID

9126745

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9126745

retrieved

8 February 2018

reference URL

http://europepmc.org/abstract/MED/9126745

 

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