(Q49210990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

1 February 2020

main subject

0 references

author

Dashuang Shi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Tao Cai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Jinyu Wu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Enjian Shen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

ZhongSheng Sun

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

language of work or name

English

0 references

publication date

17 May 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

823-826

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22595939%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/gim.2012.50

1 February 2020

exact match

0 references

cites work

Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

MagicViewer: integrated solution for next-generation sequencing data visualization and genetic variation detection and annotation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

SOAP: short oligonucleotide alignment program

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset and incomplete penetrance in China

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Folding of human superoxide dismutase: disulfide reduction prevents dimerization and produces marginally stable monomers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50

Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.50