Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser) (Q74142808)

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9 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

9 November 2019

main subject

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R W Orrell

1

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9 November 2019

S L Marklund

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J S deBelleroche

series ordinal

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 December 1997

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Journal of the Neurological Sciences

9 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

153

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9 November 2019

issue

1

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9 November 2019

page(s)

46-49

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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

9 November 2019

cites work

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

7 January 2021

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Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease

7 January 2021

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Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments

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

7 January 2021

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Electrostatic recognition between superoxide and copper, zinc superoxide dismutase

7 January 2021

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Evolution of CuZn superoxide dismutase and the Greek key beta-barrel structural motif

7 January 2021

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

7 January 2021

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

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 SOD mutant and ALS

7 January 2021

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

7 January 2021

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Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis

7 January 2021

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The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS

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

7 January 2021

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Genetics of amyotrophic lateral sclerosis

7 January 2021

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Molecular genetic basis of familial ALS.

7 January 2021

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Determination and analysis of the 2 A-structure of copper, zinc superoxide dismutase

7 January 2021

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Structure and mechanism of copper, zinc superoxide dismutase

7 January 2021

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

7 January 2021

1 reference

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10.1016/S0022-510X(97)00181-0

7 January 2021

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9455977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

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