(Q24646149)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

case report

0 references

title

A positive modifier of spinal muscular atrophy in the SMN2 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

main subject

spinal muscular atrophy

1 reference

1 reference

Adrian Robert Krainer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Arthur Burghes

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

4

Kathryn J Swoboda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Thomas W Prior

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Yimin Hua

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Pamela C Snyder

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Scott J Bridgeman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

John T Kissel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

language of work or name

English

0 references

publication date

27 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

volume

85

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

page(s)

408-413

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

6 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Phase II open label study of valproic acid in spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Identification and characterization of a spinal muscular atrophy-determining gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

ESEfinder: A web resource to identify exonic splicing enhancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Animal models of spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

A mouse model for spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Modulation of SMN nuclear foci and cytoplasmic localization by its C-terminus.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2771537

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

28 November 2018

1 reference

12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

12 December 2020

International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)

1 reference

12 December 2020

Linkage mapping of the spinal muscular atrophy gene

1 reference

12 December 2020

In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate

1 reference

12 December 2020

10.1016/J.AJHG.2009.08.002

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19716110%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

2 references