Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations (Q33839535)

29 July 2017

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title

Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations (English)

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amyotrophic lateral sclerosis

29 July 2017

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copper

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author name string

R W Orrell

series ordinal

1

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29 July 2017

1 January 2000

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29 July 2017

Neuromuscular Disorders

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29 July 2017

10

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29 July 2017

1

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29 July 2017

63-68

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

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Superoxide dismutase (glu100-->gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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%2899%2900071-1

7 January 2021

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

A new variant Cu/Zn superoxide dismutase (Val7-->Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Leu106-->Val (CTC-->GTC) mutation of superoxide dismutase-1 gene in patient with familial amyotrophic lateral sclerosis in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

A novel SOD mutant and ALS

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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%2899%2900071-1

7 January 2021

Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

SOD1 missense mutation in an Italian family with ALS

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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%2899%2900071-1

7 January 2021

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%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Mutations in all five exons ofSOD-1 may cause ALS

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Genetics of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

Familial amyotrophic lateral sclerosis with a mutation in the Cu/Zn superoxide dismutase gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900071-1

7 January 2021

10.1016/S0960-8966(99)00071-1

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10677867