(Q42950873)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

main subject

spinal muscular atrophy

1 reference

1 reference

Cobben JM

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

van der Steege G

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Grootscholten P

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

de Visser M

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Scheffer H

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Buys CH

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

language of work or name

English

0 references

publication date

1 October 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

805-808

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

Apparent SMA I unlinked to 5q.

21 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801497

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=1801497

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=1801497

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=1801497

The nosology of the spinal muscular atrophies

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801497

The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801497

Population data on acute infantile and chronic childhood spinal muscular atrophy in Warsaw

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801497

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=1801497

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive 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=1801497

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

16 August 2018

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

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

PubMed publication ID

7573039

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7573039%20AND%20SRC:MED&resulttype=core&format=json