(Q37670613)

21 August 2017

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title

Perspectives and diagnostic considerations in spinal muscular atrophy (English)

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21 August 2017

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spinal muscular atrophy

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Thomas W Prior

1

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PubMed ID

20057317

21 August 2017

language of work or name

English

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publication date

1 March 2010

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21 August 2017

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21 August 2017

12

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21 August 2017

3

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21 August 2017

145-152

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181c5e713

21 August 2017

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cites work

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

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Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives

21 January 2018

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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/10.1097%2FGIM.0B013E3181C5E713

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Structure and organization of the human survival motor neurone (SMN) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

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

21 January 2018

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Animal models of spinal muscular atrophy

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

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

21 January 2018

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Correlation between severity and SMN protein level in spinal muscular atrophy

21 January 2018

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The survival motor neuron protein in spinal muscular atrophy

21 January 2018

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A positive modifier of spinal muscular atrophy in the SMN2 gene

21 January 2018

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

21 January 2018

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Neonatal screening by DNA microarray: spots and chips

21 January 2018

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Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Determination of SMN1 and SMN2 copy number using TaqMan technology

21 January 2018

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Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Differences in SMN1 allele frequencies among ethnic groups within North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

The SMN complex, an assemblyosome of ribonucleoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Why do cells need an assembly machine for RNA-protein complexes?

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Modern management of spinal muscular atrophy

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Treatment of spinal muscular atrophy by sodium butyrate

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Valproic acid treatment in six patients with spinal muscular atrophy

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Correction of disease-associated exon skipping by synthetic exon-specific activators

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C5E713

10.1097/GIM.0B013E3181C5E713

21 January 2018

Identifiers

DOI

1 reference

PubMed ID

20057317

Dimensions Publication ID

21 August 2017

0 references

1 reference

PubMed ID

20057317