Spinal muscular atrophy diagnostics (Q36924710)

17 August 2017

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title

Spinal muscular atrophy diagnostics (English)

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17 August 2017

spinal muscular atrophy

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Thomas W Prior

1

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17 August 2017

1 August 2007

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Journal of Child Neurology

17 August 2017

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17 August 2017

22

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17 August 2017

952-956

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17 August 2017

8

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Identification and characterization of a spinal muscular atrophy-determining gene

17 August 2017

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https://api.crossref.org/works/10.1177%2F0883073807305668

A feasibility study for the newborn screening of spinal muscular atrophy.

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073807305668

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/10.1177%2F0883073807305668

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/10.1177%2F0883073807305668

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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/10.1177%2F0883073807305668

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

When is a deletion not a deletion? When it is converted

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

A mouse model for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

Animal models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073807305668

21 January 2018

Identifiers

DOI

10.1177/0883073807305668

1 reference

17 August 2017

1 reference

PubMed ID

17761649