(Q33687938)

28 July 2017

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis (English)

1 reference

amyotrophic lateral sclerosis

28 July 2017

0 references

6

Michael Benatar

1 reference

28 July 2017

5

Peter M Andersen

1 reference

28 July 2017

Joanna H Fanos

1

1 reference

28 July 2017

Susan Gronka

series ordinal

2

1 reference

28 July 2017

Joanne Wuu

series ordinal

3

1 reference

28 July 2017

Christine Stanislaw

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 2011

1 reference

28 July 2017

1 reference

28 July 2017

13

1 reference

28 July 2017

4

1 reference

28 July 2017

342-348

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318204d004

28 July 2017

0 references

cites work

Mutations of optineurin in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Disclosure of APOE genotype for risk of Alzheimer's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Long-term outcome of presymptomatic testing in Huntington disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Living at risk: concealing risk and preserving hope in Huntington disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Preventing familial amyotrophic lateral sclerosis: is a clinical trial feasible?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Psychological consequences of presymptomatic testing for Huntington's disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease. The Canadian Collaborative Study Predictive Testing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Psychological effects of presymptomatic DNA testing for Huntington's disease in the Dutch program

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

Predictive genetic test decisions for Huntington's disease: elucidating the test/no-test dichotomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7-10 years after the test

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

Psychological distress in the 5-year period after predictive testing for Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

Predictive testing for Huntington disease: a psychologist's view

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

A long term (ca 5 years) prospective assessment of psychological consequences of predictive testing for Huntington disease (HD)

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4039017

Mutations in all five exons ofSOD-1 may cause ALS

30 October 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318204D004

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis

21 January 2018

1 reference

12 December 2020

"You have shown me my end": attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

1 reference

12 December 2020

Prevalence of SOD1 mutations in the Italian ALS population

1 reference

12 December 2020

Telephoned BRCA1/2 genetic test results: prevalence, practice, and patient satisfaction

1 reference

12 December 2020

10.1097/GIM.0B013E318204D004

Identifiers

DOI

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference