(Q30573153)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

title

Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

4 December 2019

main subject

Italy

0 references

0 references

author

Mauro Ceroni

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

author name string

A Malaspina

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

R Zaman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

L Mazzini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

C Camana

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

E Poloni

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

D Curti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

4 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

volume

162

1 reference

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4 December 2019

issue

2

1 reference

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4 December 2019

page(s)

201-204

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations

4 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

Cu,Zn SOD in German families with ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

Rapid detection of medium chain acyl-CoA dehydrogenase gene mutations by non-radioactive, single strand conformation polymorphism minigels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

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%2898%2900237-8

SOD1 missense mutation in an Italian family with ALS

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

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%2898%2900237-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

Absence of the mutant SOD1 in familial amyotrophic lateral sclerosis (FALS) with two base pair deletion in the SOD1 gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2898%2900237-8

10.1016/S0022-510X(98)00237-8

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10202988%20AND%20SRC:MED&resulttype=core&format=json

4 December 2019

1 reference