(Q33676396)

28 July 2017

title

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

1 reference

amyotrophic lateral sclerosis

28 July 2017

main subject

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author name string

Jones CT

1

1 reference

28 July 2017

Swingler RJ

2

1 reference

28 July 2017

Simpson SA

3

1 reference

28 July 2017

Brock DJ

4

1 reference

28 July 2017

language of work or name

English

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publication date

1 April 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

4

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28 July 2017

page(s)

290-292

1 reference

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050378

Genetic prediction of adult onset 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=1050378

Predictive testing for Huntington's disease: after the gene. The United Kingdom Huntington's Disease Prediction Consortium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050378

Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050378

Modification of enzymatically amplified DNA for the detection of point mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050378

Functional inactivation of genes by dominant negative mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050378

Familial adult motor neuron disease: amyotrophic lateral sclerosis

21 June 2018

1 reference

12 December 2020

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

1 reference

12 December 2020

The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989

1 reference

12 December 2020

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

1 reference

12 December 2020

Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Mild ALS in Japan associated with novel SOD mutation

1 reference

12 December 2020

Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis

1 reference

12 December 2020

Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.4.290

1 reference

release_tk3hrljeanaj7haa4mvwcb4w3a

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tk3hrljeanaj7haa4mvwcb4w3a

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1050378

1 reference

28 July 2017

1 reference