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Literature DB >> 8900247

A specific superoxide dismutase mutation is on the same genetic background in sporadic and familial cases of amyotrophic lateral sclerosis.

C Hayward, R J Swingler, S A Simpson, D J Brock.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Superoxide Dismutase

Year: 1996 PMID： 8900247 PMCID： PMC1914828

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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12 in total

1. Integration of gene maps: chromosome 21.

Authors: S Lawrence; A Collins; B J Keats; M Hulten; N E Morton
Journal: Proc Natl Acad Sci U S A Date: 1993-08-01 Impact factor: 11.205

2. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.

Authors: J D Terwilliger
Journal: Am J Hum Genet Date: 1995-03 Impact factor: 11.025

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

Authors: C T Jones; R J Swingler; D J Brock
Journal: Hum Mol Genet Date: 1994-04 Impact factor: 6.150

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

Authors: T Siddique; D A Figlewicz; M A Pericak-Vance; J L Haines; G Rouleau; A J Jeffers; P Sapp; W Y Hung; J Bebout; D McKenna-Yasek
Journal: N Engl J Med Date: 1991-05-16 Impact factor: 91.245

5. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.

Authors: C T Jones; P J Shaw; G Chari; D J Brock
Journal: Mol Cell Probes Date: 1994-08 Impact factor: 2.365

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

Authors: C T Jones; R J Swingler; S A Simpson; D J Brock
Journal: J Med Genet Date: 1995-04 Impact factor: 6.318

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

Authors: H X Deng; A Hentati; J A Tainer; Z Iqbal; A Cayabyab; W Y Hung; E D Getzoff; P Hu; B Herzfeldt; R P Roos
Journal: Science Date: 1993-08-20 Impact factor: 47.728

8. Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus.

Authors: K Nikali; A Suomalainen; J Terwilliger; T Koskinen; J Weissenbach; L Peltonen
Journal: Am J Hum Genet Date: 1995-05 Impact factor: 11.025

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

Authors: D R Rosen; T Siddique; D Patterson; D A Figlewicz; P Sapp; A Hentati; D Donaldson; J Goto; J P O'Regan; H X Deng
Journal: Nature Date: 1993-03-04 Impact factor: 49.962

10. Familial adult motor neuron disease: amyotrophic lateral sclerosis.

Authors: D W Mulder; L T Kurland; K P Offord; C M Beard
Journal: Neurology Date: 1986-04 Impact factor: 9.910

8 in total

1. Changing epidemiology of motor neurone disease in Scotland.

Authors: Danielle J Leighton; Judith Newton; Laura J Stephenson; Shuna Colville; Richard Davenport; George Gorrie; Ian Morrison; Robert Swingler; Siddharthan Chandran; Suvankar Pal
Journal: J Neurol Date: 2019-02-25 Impact factor: 4.849

2. Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.

Authors: Lyndal Henden; Natalie A Twine; Piotr Szul; Emily P McCann; Garth A Nicholson; Dominic B Rowe; Matthew C Kiernan; Denis C Bauer; Ian P Blair; Kelly L Williams
Journal: NPJ Genom Med Date: 2020-08-07 Impact factor: 8.617

3. Oxidative stress and superoxide dismutase in development, aging and gene regulation.

Authors: R G Allen
Journal: Age (Omaha) Date: 1998-04

4. The incidence of motor nueron disease in Scotland.

Authors: Raeburn B Forbes; Shuna Colville; John Parratt; Robert J Swingler
Journal: J Neurol Date: 2007-04-10 Impact factor: 4.849

5. Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.

Authors: Holly A Black; Danielle J Leighton; Elaine M Cleary; Elaine Rose; Laura Stephenson; Shuna Colville; David Ross; Jon Warner; Mary Porteous; George H Gorrie; Robert Swingler; David Goldstein; Matthew B Harms; Peter Connick; Suvankar Pal; Timothy J Aitman; Siddharthan Chandran
Journal: Neurobiol Aging Date: 2016-12-21 Impact factor: 4.673