(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

main subject

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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

publication date

1 January 2000

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29 July 2017

published in

Neuromuscular Disorders

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29 July 2017

volume

10

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29 July 2017

issue

1

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29 July 2017

page(s)

63-68

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

29 July 2017

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

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

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Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

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

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Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis

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

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

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

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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

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

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

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

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

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

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7 January 2021

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

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

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

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

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7 January 2021

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

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7 January 2021

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7 January 2021

A novel SOD mutant and ALS

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

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7 January 2021

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

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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

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7 January 2021

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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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7 January 2021

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

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7 January 2021

Mutations in all five exons ofSOD-1 may cause ALS

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7 January 2021

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

10.1016/S0960-8966(99)00071-1

Identifiers

DOI

1 reference

29 July 2017

1 reference