(Q73918605)

English

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

scientific article published on 01 May 2001

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scholarly article

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Europe PubMed Central

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7 November 2019

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations (English)

1 reference

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7 November 2019

amyotrophic lateral sclerosis

1 reference

based on heuristic

inferred from title

1

1 reference

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7 November 2019

Barbara Castellotti

2

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7 November 2019

Vincenzo Silani

4

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7 November 2019

8

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7 November 2019

author name string

M C Riggio

3

1 reference

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7 November 2019

L Morandi

5

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7 November 2019

D Testa

6

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7 November 2019

C Casali

7

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7 November 2019

S Di Donato

9

1 reference

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7 November 2019

M Zeviani

10

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7 November 2019

C Mariotti

11

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7 November 2019

publication date

1 May 2001

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7 November 2019

Neuromuscular Disorders

1 reference

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7 November 2019

11

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7 November 2019

4

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7 November 2019

404-410

1 reference

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7 November 2019

Familial adult motor neuron disease: amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutant CuZn superoxide dismutase in motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in all five exons ofSOD-1 may cause ALS

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

SOD1 missense mutation in an Italian family with ALS

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A SOD1 gene mutation in a patient with slowly progressing familial ALS.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of familial ALS and consequences for diagnosis. French ALS Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical characteristics of SOD1 gene mutations in UK families with ALS

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The natural history of motoneuron loss in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Onset, natural history and outcome in idiopathic adult motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900215-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(00)00215-7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369193%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11369193%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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