Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase (Q71990868)

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22 October 2019

title

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

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amyotrophic lateral sclerosis

22 October 2019

main subject

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Andersen PM

1

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22 October 2019

Nilsson P

2

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22 October 2019

Ala-Hurula V

3

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Keränen ML

4

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Tarvainen I

5

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Haltia T

6

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Nilsson L

7

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Binzer M

8

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Forsgren L

9

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Marklund SL

10

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22 October 2019

publication date

1 May 1995

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22 October 2019

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volume

10

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issue

1

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22 October 2019

page(s)

61-66

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https://scigraph.springernature.com/pub.10.1038/ng0595-61

22 October 2019

exact match

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cites work

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

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7 January 2021

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

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Mild ALS in Japan associated with novel SOD mutation

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SOD1 missense mutation in an Italian family with ALS

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis

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7 January 2021

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

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7 January 2021

Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis

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7 January 2021

Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis

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Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

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7 January 2021

Human copper-containing superoxide dismutase of high molecular weight

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Plasma extracellular superoxide dismutase and erythrocyte Cu,Zn-containing superoxide dismutase in alcoholics treated with disulfiram

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7 January 2021

Epidemiologic investigations of amyotrophic lateral sclerosis. 2. Familial aggregations indicative of dominant inheritance. I.

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7 January 2021

Phenotypic and genotypic heterogeneity of dominantly inherited amyotrophic lateral sclerosis

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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

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7 January 2021

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Superoxide Dismutase. A Population Study

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Epidemiology of motor neuron disease in northern Sweden.

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

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Conserved patterns in the Cu,Zn superoxide dismutase family.

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ALS, SOD and peroxynitrite

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Criteria for diagnosis of familial amyotrophic lateral sclerosis. European FALS Collaborative Group

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Confounding and effect-modification

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7 January 2021

Identifiers

DOI

10.1038/NG0595-61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7647793%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

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