(Q35833523)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

SMN1 gene duplications are associated with sporadic ALS (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

22 January 2020

main subject

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Leonard H van den Berg

8

object named as

L H van den Berg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

H M Blauw

1

1 reference

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22 January 2020

P W J van Vught

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

W van Rheenen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

M Verheul

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

E Cuppen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

J H Veldink

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

English

0 references

publication date

8 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

11

1 reference

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22 January 2020

page(s)

776-780

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

Spinal muscular atrophy: mechanisms and therapeutic strategies

22 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

The importance of the SMN genes in the genetics of sporadic ALS.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

A robust statistical method for case-control association testing with copy number variation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Relative impact of nucleotide and copy number variation on gene expression phenotypes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

6 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3304946

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7

6 December 2018

1 reference

12 December 2020

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

1 reference

12 December 2020

Differential SMN2 expression associated with SMA severity

1 reference

12 December 2020

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

1 reference

12 December 2020

10.1212/WNL.0B013E318249F697

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323753%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference