(Q38889624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

2 March 2020

main subject

risk factor

0 references

0 references

author

Vincent Plagnol

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Pietro Fratta

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Anny Devoy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Elizabeth M. C. Fisher

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

author name string

James Charnock

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Toby Collins

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Robin Howard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Andrea Malaspina

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Richard Orrell

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Katie Sidle

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Jan Clarke

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Maryam Shoai

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Ching-Hua Lu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

John Hardy

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

language of work or name

English

0 references

publication date

5 December 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

Journal of Neurology, Neurosurgery and Psychiatry

2 March 2020

published in

1 reference

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2 March 2020

volume

85

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

page(s)

506-508

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3995330

22 August 2018

Identifiers

DOI

10.1136/JNNP-2013-306761

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

24309268

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24309268%20AND%20SRC:MED&resulttype=core&format=json