(Q74557706)

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11 November 2019

title

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

1 reference

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11 November 2019

main subject

spinal muscular atrophy

1 reference

1 reference

2

1 reference

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11 November 2019

Arthur Burghes

8

1 reference

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11 November 2019

Elliot J. Androphy

9

1 reference

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11 November 2019

author name string

Lorson CL

1

1 reference

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11 November 2019

Yao JM

3

1 reference

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11 November 2019

Baleja JD

4

1 reference

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11 November 2019

Hahnen E

5

1 reference

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11 November 2019

Wirth B

6

1 reference

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11 November 2019

Le T

7

1 reference

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11 November 2019

publication date

1 May 1998

1 reference

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11 November 2019

1 reference

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11 November 2019

volume

19

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11 November 2019

issue

1

1 reference

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11 November 2019

page(s)

63-66

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Identification and characterization of a spinal muscular atrophy-determining gene

11 November 2019

cites work

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

When is a deletion not a deletion? When it is converted

1 reference

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

7 January 2021

Spinal muscular atrophy

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

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

7 January 2021

Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

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

1 reference

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

7 January 2021

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

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

7 January 2021

The survival motor neuron protein in spinal muscular atrophy

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

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

7 January 2021

Genetic analysis of the bovine papillomavirus E2 transcriptional activation domain

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Identifiers

DOI

10.1038/NG0598-63

1 reference

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

11 November 2019

1 reference