(Q42668853)

4 November 2017

Gene deletions in spinal muscular atrophy (English)

1 reference

4 November 2017

spinal muscular atrophy

1 reference

1 reference

N R Rodrigues

1

1 reference

4 November 2017

N Owen

2

1 reference

4 November 2017

K Talbot

3

1 reference

4 November 2017

S Patel

4

1 reference

4 November 2017

F Muntoni

5

1 reference

4 November 2017

J Ignatius

6

1 reference

4 November 2017

V Dubowitz

7

1 reference

4 November 2017

K E Davies

8

1 reference

4 November 2017

language of work or name

English

0 references

publication date

1 February 1996

1 reference

Journal of Medical Genetics

4 November 2017

1 reference

4 November 2017

33

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4 November 2017

2

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4 November 2017

93-96

1 reference

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Dystrophin and related proteins

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

A rearrangement on chromosome 5 of an expressed human beta-glucuronidase pseudogene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Two 5q13 simple tandem repeat loci are in linkage disequilibrium with type 1 spinal muscular atrophy.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Identification and characterization of a spinal muscular atrophy-determining gene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Genes for SMA: multum in parvo

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

A YAC Contig of the Region Containing the Spinal Muscular Atrophy Gene (SMA): Identification of an Unstable Region

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

A provisional transcript map of the spinal muscular atrophy (SMA) critical region

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Constitutive muscular abnormalities in culture in spinal muscular atrophy

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051831

Classification of spinal muscular atrophies

16 August 2018

1 reference

12 December 2020

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

1 reference

12 December 2020

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

1 reference

12 December 2020

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

SMA genes: deleted and duplicated

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.2.93

1 reference

4 November 2017

1 reference

4 November 2017

PubMed publication ID

8929942

1 reference