(Q42850962)

English

Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy

scientific article published on August 1998

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scholarly article

1 reference

Europe PubMed Central

8 November 2017

Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy (English)

1 reference

Europe PubMed Central

8 November 2017

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

author name string

Tizzano EF

1

1 reference

Europe PubMed Central

8 November 2017

Cabot C

2

1 reference

Europe PubMed Central

8 November 2017

Baiget M

3

1 reference

Europe PubMed Central

8 November 2017

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

8 November 2017

The American Journal of Pathology

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Europe PubMed Central

8 November 2017

153

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Europe PubMed Central

8 November 2017

2

1 reference

Europe PubMed Central

8 November 2017

355-361

1 reference

Europe PubMed Central

8 November 2017

The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

The survival motor neuron protein in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Expression study of survival motor neuron gene in human fetal tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

A novel nuclear structure containing the survival of motor neurons protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues. Clues for the infertility in patients with cystic fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

27 May 2018

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852981

16 August 2018

Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965578-2

7 January 2021

Infantile muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965578-2

7 January 2021

Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2965578-2

7 January 2021

Identifiers

10.1016/S0002-9440(10)65578-2

1 reference

Europe PubMed Central

8 November 2017

1 reference

Europe PubMed Central

8 November 2017

1 reference

Europe PubMed Central

8 November 2017

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