(Q35623349)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

review article

1 reference

title

Spinal muscular atrophy: molecular genetics and diagnostics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 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:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

author name string

Robert B Wilson

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

language of work or name

English

0 references

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

17 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

page(s)

15-29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14711346%20AND%20SRC:MED&resulttype=core&format=json

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

17 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Early diaphragmatic paralysis. In infants with genetic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Molecular diagnostics in preimplantation genetic diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

Conversion of diploidy to haploidy

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15

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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.4.1.15