(Q33954327)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

congenital muscular dystrophy

10 November 2019

main subject

congenital disorder

0 references

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Pascale Guicheney

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

Moghadaszadeh B

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Petit N

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Jaillard C

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Brockington M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Quijano Roy S

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Romero N

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Estournet B

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Desguerre I

9

1 reference

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10 November 2019

Chaigne D

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Muntoni F

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Topaloglu H

12

1 reference

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10 November 2019

language of work or name

English

0 references

publication date

1 September 2001

1 reference

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10 November 2019

1 reference

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10 November 2019

volume

29

1 reference

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10 November 2019

page(s)

17-18

1 reference

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10 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng713

10 November 2019

exact match

0 references

cites work

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

7 January 2021

Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif

1 reference

7 January 2021

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

1 reference

7 January 2021

Selenium in animal nutrition: the Oregon and San Joaquin Valley (California) experiences--examples of correctable deficiencies in livestock

1 reference

7 January 2021

Keshan disease-an endemic cardiomyopathy in China

1 reference

7 January 2021

Functional characterization of the eukaryotic SECIS elements which direct selenocysteine insertion at UGA codons

1 reference

7 January 2021

Conserved features of selenocysteine insertion sequence (SECIS) elements in selenoprotein W cDNAs from five species

1 reference

7 January 2021

The diverse role of selenium within selenoproteins: a review

1 reference

7 January 2021

Selenium, the element of the moon, in life on earth

1 reference

7 January 2021

Structure and mechanism of mammalian thioredoxin reductase: the active site is a redox-active selenolthiol/selenenylsulfide formed from the conserved cysteine-selenocysteine sequence

1 reference

7 January 2021

Rigid spine syndrome and rigid spine sign in myopathies

1 reference

7 January 2021

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG713

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11528383%20AND%20SRC:MED&resulttype=core&format=json