SMN oligomerization defect correlates with spinal muscular atrophy severity (Q74557706)

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scientific article published on 01 May 1998

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Language	Label	Description	Also known as
English	SMN oligomerization defect correlates with spinal muscular atrophy severity	scientific article published on 01 May 1998

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

title

SMN oligomerization defect correlates with spinal muscular atrophy severity (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

main subject

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

muscular atrophy

1 reference

based on heuristic

inferred from title

author

John Strasswimmer

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Arthur Burghes

series ordinal

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Elliot J. Androphy

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

author name string

Lorson CL

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Yao JM

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Baleja JD

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Hahnen E

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Wirth B

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

Le T

series ordinal

7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

publication date

1 May 1998

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

published in

Nature Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

volume

19

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

issue

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

page(s)

63-66

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

cites work

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

When Is a Deletion Not a Deletion? When It Is Converted

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinal muscular atrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The survival motor neuron protein in spinal muscular atrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic analysis of the bovine papillomavirus E2 transcriptional activation domain

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Interaction of papillomavirus E6 oncoproteins with a putative calcium-binding protein

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1038%2FNG0598-63

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG0598-63

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

PubMed publication ID

9590291

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9590291

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9590291%20AND%20SRC:MED&resulttype=core&format=json

retrieved

11 November 2019

 

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