A large animal model of spinal muscular atrophy and correction of phenotype (Q27340106)

25516063

25 June 2017

title

A large animal model of spinal muscular atrophy and correction of phenotype (English)

1 reference

25516063

25 June 2017

main subject

spinal muscular atrophy

1 reference

1 reference

1 reference

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25516063%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Arthur Burghes

11

1 reference

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11 June 2020

author name string

Sandra I Duque

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25516063%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

W David Arnold

2

1 reference

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11 June 2020

Philipp Odermatt

3

1 reference

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11 June 2020

Xiaohui Li

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25516063%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Paul N Porensky

5

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11 June 2020

Leah Schmelzer

6

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11 June 2020

Kathrin Meyer

7

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11 June 2020

Stephen J Kolb

8

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11 June 2020

Brian K Kaspar

10

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11 June 2020

language of work or name

English

0 references

publication date

9 February 2015

1 reference

25 June 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25516063%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

77

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11 June 2020

issue

3

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11 June 2020

page(s)

399-414

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describes a project that uses

11 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4453930/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

21 March 2017

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Self-complementary recombinant adeno-associated virus (scAAV) vectors promote efficient transduction independently of DNA synthesis

21 March 2017

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

21 March 2017

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

21 March 2017

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Regulation of SMN protein stability

21 March 2017

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A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy

21 March 2017

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21 March 2017

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

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Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

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Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept.

29 September 2017

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Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation.

29 September 2017

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Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS

29 September 2017

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SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs.

29 September 2017

1 reference

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Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

29 September 2017

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Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

29 September 2017

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Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

29 September 2017

1 reference

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Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates

29 September 2017

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Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I.

29 September 2017

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29 September 2017

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29 September 2017

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A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

29 September 2017

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Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy

29 September 2017

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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

29 September 2017

1 reference

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Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

29 September 2017

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29 September 2017

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Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.

29 September 2017

1 reference

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Temporal requirement for high SMN expression in SMA mice

29 September 2017

1 reference

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Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

29 September 2017

1 reference

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Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy

29 September 2017

1 reference

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Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

29 September 2017

1 reference

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Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

29 September 2017

1 reference

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CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

29 September 2017

1 reference

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

29 September 2017

1 reference

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Embryonic motor axon development in the severe SMA mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

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=4453930

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=4453930

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

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=4453930

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=4453930

Electrophysiological estimation of the number of motor units within a human muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

Incidence, prevalence, and gene frequency studies of chronic childhood 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=4453930

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=4453930

Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

The neurobiology of childhood spinal muscular atrophy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

Electromyography and muscle biopsy in infantile spinal muscular atrophy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

2 June 2018

1 reference

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs.

21 January 2018

1 reference

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

21 January 2018

1 reference

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

21 January 2018

1 reference

Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4453930

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

27 November 2018

1 reference

12 December 2020

Newborn and carrier screening for spinal muscular atrophy

1 reference

12 December 2020

Comparison of incremental with multipoint MUNE methods in transgenic ALS mice

1 reference

12 December 2020

Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.24332

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25516063%20AND%20SRC:MED&resulttype=core&format=json

release_52rmvxlgwnbfrb3vu6f63kvlki

11 June 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/52rmvxlgwnbfrb3vu6f63kvlki

24 November 2022

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

3529146

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3529146

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25516063%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

25516063

1 reference