A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis (Q44247546)

1 December 2017

title

A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

1 December 2017

main subject

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3

Manho Kim

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1 December 2017

Nam-Hee Kim

1

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1 December 2017

Hyun-Jung Kim

series ordinal

2

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1 December 2017

Kwang-Woo Lee

series ordinal

4

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1 December 2017

publication date

1 January 2003

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Journal of the Neurological Sciences

1 December 2017

published in

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1 December 2017

volume

206

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1 December 2017

issue

1

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1 December 2017

page(s)

65-69

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Amyotrophic lateral sclerosis

1 December 2017

cites work

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Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

7 January 2021

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

7 January 2021

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Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21

7 January 2021

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Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis

7 January 2021

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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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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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.

7 January 2021

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Clinical implications of the genetics of ALS and other motor neuron diseases

7 January 2021

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Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

7 January 2021

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A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis

7 January 2021

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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

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Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

7 January 2021

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Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation

7 January 2021

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Response of a protein structure to cavity-creating mutations and its relation to the hydrophobic effect

7 January 2021

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Cooperativity induced by a single mutation at the subunit interface of a dimeric enzyme: glutathione reductase

7 January 2021

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Probing protein stability with unnatural amino acids

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressive familial amyotrophic lateral sclerosis

7 January 2021

1 reference

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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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-510X(02)00338-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0022-510X(02)00338-6

10.1016/S0022-510X(02)00338-6

7 January 2021

Identifiers

DOI

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1 December 2017

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