(Q37652972)

21 August 2017

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case (English)

1 reference

amyotrophic lateral sclerosis

21 August 2017

0 references

10

Adriano Chiò

1 reference

21 August 2017

2

Cristina Moglia

1 reference

21 August 2017

9

Gabriella Restagno

1 reference

21 August 2017

4

Maura Brunetti

1 reference

21 August 2017

6

Bryan J Traynor

1 reference

21 August 2017

Andrea Calvo

1

1 reference

21 August 2017

Antonio Canosa

3

1 reference

21 August 2017

Marco Barberis

5

1 reference

21 August 2017

Giovanna Carrara

7

1 reference

21 August 2017

Consuelo Valentini

8

1 reference

21 August 2017

27 December 2013

1 reference

21 August 2017

Neurobiology of Aging

1 reference

21 August 2017

35

1 reference

21 August 2017

6

1 reference

21 August 2017

1513.e7-11

1 reference

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Exome sequencing to identify de novo mutations in sporadic ALS trios

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Extensive genetics of ALS: a population-based study in Italy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Patterns and rates of exonic de novo mutations in autism spectrum disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

FUS mutations in sporadic amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Mutations in FUS cause FALS and SALS in French and French Canadian populations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Genetic counselling in ALS: facts, uncertainties and clinical suggestions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Evidence for an oligogenic basis of 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=3961545

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Epidemiology of ALS in Italy: a 10-year prospective population-based study.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Proposed criteria for familial amyotrophic lateral sclerosis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

?True? sporadic ALS associated with a novel SOD-1 mutation

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3961545

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24439481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24439481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24439481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2013.12.028

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24439481

1 reference