(Q73128584)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Clinical characteristics of SOD1 gene mutations in UK families with ALS (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

1 November 2019

main subject

1 reference

R W Orrell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J J Habgood

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A Malaspina

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Mitchell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Greenwood

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

R J Lane

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J S deBelleroche

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 October 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

169

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

56-60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

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

1 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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%2899%2900216-6

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%2899%2900216-6

Copper, zinc superoxide dismutase (SOD1) and its role in neuronal function and disease with particular relevance to motor neurone disease/amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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%2899%2900216-6

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%2899%2900216-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

A novel SOD mutant and ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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%2899%2900216-6

Mutations in all five exons ofSOD-1 may cause ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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%2899%2900216-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

"Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900216-6

10.1016/S0022-510X(99)00216-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10540008%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference