(Q74142808)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

9 November 2019

main subject

1 reference

R W Orrell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S L Marklund

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J S deBelleroche

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 December 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

46-49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Electrostatic recognition between superoxide and copper, zinc superoxide dismutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Evolution of CuZn superoxide dismutase and the Greek key beta-barrel structural motif

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

A novel SOD mutant and ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Familial amyotrophic lateral sclerosis with a point mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Genetics of amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Molecular genetic basis of familial ALS.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Determination and analysis of the 2 A-structure of copper, zinc superoxide dismutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

Structure and mechanism of copper, zinc superoxide dismutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900181-0

10.1016/S0022-510X(97)00181-0

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference