(Q37393988)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

7 February 2020

main subject

Italy

0 references

0 references

author

Nicola Ticozzi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Vincenzo Silani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Cinzia Gellera

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Franco Taroni

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

12

J E Landers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

A L LeClerc

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

P Keagle

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

A Ratti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

T J Kwiatkowski

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

D M McKenna-Yasek

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

P C Sapp

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

R H Brown

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

language of work or name

English

0 references

publication date

9 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

number of pages

6

1 reference

based on heuristic

inferred from page(s)

published in

Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

73

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

1180-1185

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Rethinking ALS: the FUS about TDP-43.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Induced ncRNAs allosterically modify RNA-binding proteins in cis to inhibit transcription

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

SNAP: predict effect of non-synonymous polymorphisms on function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

ESEfinder: A web resource to identify exonic splicing enhancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Early or late appearance of "dropped head syndrome" in amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Automated finishing with autofinish

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Consensus guidelines for the design and implementation of clinical trials in ALS. World Federation of Neurology committee on Research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Genomic structure of the human RBP56/hTAFII68 and FUS/TLS genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Oncoprotein TLS interacts with serine-arginine proteins involved in RNA splicing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Consed: a graphical tool for sequence finishing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Base-calling of automated sequencer traces using phred. II. Error probabilities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

TLS (FUS) binds RNA in vivo and engages in nucleo-cytoplasmic shuttling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Identification and characterization of the nuclear localization/retention signal in the EWS proto-oncoprotein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Improved splice site detection in Genie

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Analysis of donor splice sites in different eukaryotic organisms.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Focality of upper and lower motor neuron degeneration at the clinical onset of ALS.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Incidence of ALS in Lombardy, Italy.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2764725

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19741215

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19741215

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3181BBFF05

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19741215%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference