Literature DB >> 8004110

Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis.

A Elshafey1, W G Lanyon, J M Connor.   

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Year:  1994        PMID： 8004110     DOI： 10.1093/hmg/3.2.363

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  14 in total

1.  A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease.

Authors:  Tennore Ramesh; Alison N Lyon; Ricardo H Pineda; Chunping Wang; Paul M L Janssen; Benjamin D Canan; Arthur H M Burghes; Christine E Beattie
Journal:  Dis Model Mech       Date:  2010-05-26       Impact factor: 5.758

Review 2.  Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.

Authors:  A Radunovíc; P N Leigh
Journal:  J Neurol Neurosurg Psychiatry       Date:  1996-12       Impact factor: 10.154

3.  Copper/zinc superoxide dismutase expression in the human central nervous system. Correlation with selective neuronal vulnerability.

Authors:  C Bergeron; C Petrunka; L Weyer
Journal:  Am J Pathol       Date:  1996-01       Impact factor: 4.307

Review 4.  Amyotrophic lateral sclerosis: human challenge for neuroscience.

Authors:  L P Rowland
Journal:  Proc Natl Acad Sci U S A       Date:  1995-02-28       Impact factor: 11.205

5.  Subunit asymmetry in the three-dimensional structure of a human CuZnSOD mutant found in familial amyotrophic lateral sclerosis.

Authors:  P J Hart; H Liu; M Pellegrini; A M Nersissian; E B Gralla; J S Valentine; D Eisenberg
Journal:  Protein Sci       Date:  1998-03       Impact factor: 6.725

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.  Molecular analyses of the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS) in Japan.

Authors:  M Aoki; K Abe; Y Itoyama
Journal:  Cell Mol Neurobiol       Date:  1998-12       Impact factor: 5.046

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

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

9.  Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity.

Authors:  D R Borchelt; M K Lee; H S Slunt; M Guarnieri; Z S Xu; P C Wong; R H Brown; D L Price; S S Sisodia; D W Cleveland
Journal:  Proc Natl Acad Sci U S A       Date:  1994-08-16       Impact factor: 11.205

Review 10.  Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): a review of current developments.

Authors:  J de Belleroche; R Orrell; A King
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
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