(Q28288188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

main subject

heart failure

0 references

spinal muscular atrophy

1 reference

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Arthur Burghes

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Adam K Bevan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Kirk R Hutchinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Kevin D Foust

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Lyndsey Braun

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Vicki L McGovern

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Leah Schmelzer

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Jennifer G Ward

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Pamela A Lucchesi

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Brian K Kaspar

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

language of work or name

English

0 references

publication date

16 July 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

3895-3905

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

Regulation of SMN protein stability

8 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=2947399

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Medical considerations of long-term survival of Werdnig-Hoffmann disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Identification and characterization of a spinal muscular atrophy-determining gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

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=2947399

CNS-targeted gene therapy improves survival and motor function in a mouse model of 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=2947399

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Vascular perfusion abnormalities in infants with spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Adeno-associated virus (AAV) serotype 9 provides global cardiac gene transfer superior to AAV1, AAV6, AAV7, and AAV8 in the mouse and rat.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Isolated congenital atrioventricular block diagnosed in utero: natural history and outcome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Ecstasy produces left ventricular dysfunction and oxidative stress in rats

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Mitochondrial energy metabolism in heart failure: a question of balance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Mitochondrial dysfunction in cardiac disease: ischemia--reperfusion, aging, and heart failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

A mouse model for spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Low dose dobutamine stress echocardiography predicts the improvement of left ventricular systolic function in dilated cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

The survival motor neuron protein in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Correlation between severity and SMN protein level in spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Cardiac involvement in the Kugelberg-Welander syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

The genetic component in child mortality

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

Myocardial ultrastructural changes in Kugelberg-Welander syndrome

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

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

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

Correlation of the tei index with invasive measurements of ventricular function in a porcine model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

Dobutamine stress testing as a diagnostic tool for evaluation of myocardial contractile reserve in asymptomatic or mildly symptomatic patients with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

Cardiac findings in adolescents with anorexia nervosa at diagnosis and after weight restoration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ300

New index of combined systolic and diastolic myocardial performance: a simple and reproducible measure of cardiac function--a study in normals and dilated cardiomyopathy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947399

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

27 November 2018

1 reference

12 December 2020

Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy

1 reference

12 December 2020

Tei-index in patients with mild-to-moderate congestive heart failure

1 reference

12 December 2020

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

1 reference

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

1 reference

12 December 2020

Effects of complete heart block on myocardial function, morphology, and energy metabolism in the rat

1 reference

12 December 2020

Neurological outcome in isolated congenital heart block and hydrops fetalis

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ300

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20639395%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

20639395

2 references