(Q34297206)

1 August 2017

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients (English)

1 reference

1 August 2017

0 references

spinal muscular atrophy

1 reference

1 reference

9

Munnich A

1 reference

1 August 2017

Bussaglia E

1

1 reference

1 August 2017

Clermont O

2

1 reference

1 August 2017

Tizzano E

3

1 reference

1 August 2017

Lefebvre S

4

1 reference

1 August 2017

Bürglen L

5

1 reference

1 August 2017

Cruaud C

6

1 reference

1 August 2017

Urtizberea JA

7

1 reference

1 August 2017

Colomer J

8

1 reference

1 August 2017

Baiget M

10

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 November 1995

1 reference

1 August 2017

1 reference

1 August 2017

11

1 reference

1 August 2017

335-337

1 reference

1 August 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1195-335

1 August 2017

0 references

cites work

Identification and characterization of a spinal muscular atrophy-determining gene

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

Genes for SMA: multum in parvo

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

7 January 2021

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

7 January 2021

SMA genes: deleted and duplicated

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

7 January 2021

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG1195-335

7 January 2021

Identifiers

DOI

10.1038/NG1195-335

1 reference

1 August 2017

1 reference