(Q33962485)

30 July 2017

title

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III (English)

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intermediate spinal muscular atrophy

30 July 2017

main subject

spinal muscular atrophy

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7

Helgi B Schiöth

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30 July 2017

author name string

Galina Yu Zheleznyakova

1

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30 July 2017

Anton V Kiselev

2

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30 July 2017

Viktor G Vakharlovsky

3

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30 July 2017

Mathias Rask-Andersen

4

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30 July 2017

Rohit Chavan

5

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30 July 2017

Anna A Egorova

6

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30 July 2017

Vladislav S Baranov

8

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30 July 2017

publication date

15 July 2011

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30 July 2017

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30 July 2017

volume

12

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30 July 2017

page(s)

96

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A positive modifier of spinal muscular atrophy in the SMN2 gene

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Spinal muscular atrophy: from gene to therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Determination of SMN1 and SMN2 copy number using TaqMan technology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Survival motor neuron protein modulates neuron-specific apoptosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Spinal muscular atrophy: untangling the knot?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Correlation between severity and SMN protein level in spinal muscular atrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

Identification and characterization of a spinal muscular atrophy-determining gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

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

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-96

SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-96

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-96

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-96

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-96

The effect of hydroxyurea in spinal muscular atrophy cells and patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-96

Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3146920

[Analysis of deletional damage in SMN1, SMN2, and NAIP genes in patients with spinal muscular atrophy in the northwestern region of Russia]

29 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy

1 reference

12 December 2020

Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype 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

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

1 reference

12 December 2020

Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy

1 reference

12 December 2020

Unaffected patients with a homozygous absence of the SMN1 gene

1 reference

12 December 2020

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-12-96

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Dimensions Publication ID

30 July 2017

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30 July 2017

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