(Q38300319)

1 September 2017

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy (English)

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1 September 2017

spinal muscular atrophy

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4

Annick Toutain

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1 September 2017

3

Judith Melki

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1 September 2017

Myriam Vezain

1

1 reference

1 September 2017

Pascale Saugier-Veber

2

1 reference

1 September 2017

Eric Bieth

5

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1 September 2017

Marie Husson

6

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1 September 2017

Jean-Michel Pedespan

7

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1 September 2017

Louis Viollet

8

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1 September 2017

Isabelle Pénisson-Besnier

9

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1 September 2017

Séverine Fehrenbach

10

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1 September 2017

Jacqueline Bou

11

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1 September 2017

Thierry Frébourg

12

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1 September 2017

Mario Tosi

13

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1 September 2017

4 July 2007

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European Journal of Human Genetics

1 September 2017

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1 September 2017

15

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1 September 2017

1054-1062

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1 September 2017

10

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201885

1 September 2017

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cites work

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Treatment of spinal muscular atrophy by sodium butyrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Therapeutics development for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Essential role for the SMN complex in the specificity of snRNP assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Survival motor neuron protein modulates neuron-specific apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

7 January 2021

Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

7 January 2021

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201885

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201885

1 reference

Dimensions Publication ID

1 September 2017

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1 reference