(Q78005515)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

review article

1 reference

title

Spinal muscular atrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

main subject

spinal muscular atrophy

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

545-554

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10407786%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/a:1005516625866

10 December 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel nuclear structure containing the survival of motor neurons protein

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

12 December 2020

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

1 reference

12 December 2020

Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

1 reference

12 December 2020

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

1 reference

12 December 2020

Diversity and pattern in the developing spinal cord

1 reference

12 December 2020

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

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

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

1 reference

12 December 2020

Correlation between severity and SMN protein level in spinal muscular atrophy

1 reference

12 December 2020

Messenger RNAs in dendrites: localization, stability, and implications for neuronal function

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis

1 reference

12 December 2020

Cell death during development of the nervous system

1 reference

12 December 2020

Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosis

1 reference

12 December 2020

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

1 reference

12 December 2020

Expression of the tissue specific splicing protein SmN in neuronal cell lines and in regions of the brain with different splicing capacities

1 reference

12 December 2020

The survival motor neuron protein in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification and characterization of a spinal muscular atrophy-determining gene

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

Genetic homogeneity between acute and chronic forms of spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020