(Q33933854)

30 July 2017

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title

Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better (English)

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30 July 2017

main subject

spinal muscular atrophy

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1 reference

Brahe C

1

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30 July 2017

publication date

1 June 2000

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30 July 2017

published in

Neuromuscular Disorders

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30 July 2017

volume

10

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30 July 2017

issue

4-5

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30 July 2017

page(s)

274-275

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A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900137-6

7 January 2021

10.1016/S0960-8966(99)00137-6

Identifiers

DOI

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30 July 2017

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