(Q28304987)

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

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1 November 2019

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

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1 November 2019

progressive myoclonus epilepsy

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Antonio Federico

11

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1 November 2019

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1 November 2019

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Rouleau GA

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1 November 2019

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Lafrenière RG

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1 November 2019

Rochefort DL

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1 November 2019

Chrétien N

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1 November 2019

Rommens JM

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1 November 2019

Cochius JI

5

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1 November 2019

Kälviäinen R

6

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1 November 2019

Nousiainen U

7

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1 November 2019

Patry G

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1 November 2019

Farrell K

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1 November 2019

Söderfeldt B

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1 November 2019

Hale BR

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1 November 2019

Cossio OH

13

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1 November 2019

Sørensen T

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1 November 2019

Pouliot MA

15

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1 November 2019

Uldall P

17

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1 November 2019

Janszky J

18

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1 November 2019

Pranzatelli MR

19

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1 November 2019

Andermann F

20

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1 November 2019

Andermann E

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1 March 1997

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1 November 2019

Nature Genetics

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1 November 2019

15

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1 November 2019

298-302

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1 November 2019

3

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1 November 2019

https://scigraph.springernature.com/pub.10.1038/ng0397-298

0 references

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1 reference

https://api.crossref.org/works/10.1038/NG0397-298

20 April 2017

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1038/NG0397-298

20 April 2017

A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

21 January 2018

Familial progressive myoclonic epilepsy. A clinical, genetical, biochemical and patho-anatomical study of a family with a 6-year follow-up.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

21 January 2018

Isolation and mapping of human chromosome 21 cDNA: progress in constructing a chromosome 21 expression map.

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

21 January 2018

Classification of progressive myoclonus epilepsies and related disorders

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

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/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

The Ramsay Hunt syndrome is no longer a useful diagnostic category

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage mapping of the cystathionine ?-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3? untranslated region

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Dinucleotide repeat polymorphism at the human liver-type 6-phosphofructokinase (PFKL) gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

A NotI restriction map of the entire long arm of human chromosome 21

1 reference

https://api.crossref.org/works/10.1038%2FNG0397-298

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/NG0397-298

1 reference

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1 November 2019

1 reference

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1 November 2019

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