(Q48897272)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8938700%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8938700%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

21 October 2019

main subject

0 references

author name string

Hosler BA

1

1 reference

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21 October 2019

Nicholson GA

2

1 reference

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21 October 2019

Sapp PC

3

1 reference

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21 October 2019

Chin W

4

1 reference

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21 October 2019

Orrell RW

5

1 reference

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21 October 2019

de Belleroche JS

6

1 reference

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21 October 2019

Esteban J

7

1 reference

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21 October 2019

Hayward LJ

8

1 reference

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21 October 2019

Mckenna-Yasek D

9

1 reference

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21 October 2019

Yeung L

10

1 reference

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21 October 2019

Cherryson AK

11

1 reference

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21 October 2019

Dench JE

12

1 reference

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21 October 2019

Wilton SD

13

1 reference

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21 October 2019

Brown RH Jr

16

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21 October 2019

publication date

1 October 1996

1 reference

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21 October 2019

published in

Neuromuscular Disorders

1 reference

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21 October 2019

volume

6

1 reference

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21 October 2019

issue

5

1 reference

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21 October 2019

page(s)

361-366

1 reference

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

21 October 2019

cites work

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management.

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Amyotrophic lateral sclerosis: Part 2. Etiopathogenesis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

The D90A mutation results in a polymorphism of Cu, Zn superoxide dismutase that is prevalent in northern Sweden and Finland

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

A novel SOD mutant and ALS

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

ALS, SOD and peroxynitrite

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Familial adult motor neuron disease: amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

SOD1 missense mutation in an Italian family with ALS

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

A characterization of copper/zinc superoxide dismutase mutants at position 124. Zinc-deficient proteins

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

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

1 reference

11 October 2022

https://opencitations.net/index/coci/api/v1/references/10.1016/0960-8966(96)00353-7

Identifiers

DOI

10.1016/0960-8966(96)00353-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8938700%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference