Literature DB >> 8971099

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

A Radunovíc1, P N Leigh.   

Abstract

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Year:  1996        PMID： 8971099      PMCID： PMC486646          DOI： 10.1136/jnnp.61.6.565

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  69 in total

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

Authors:  P M Andersen; L Forsgren; M Binzer; P Nilsson; V Ala-Hurula; M L Keränen; L Bergmark; A Saarinen; T Haltia; I Tarvainen; E Kinnunen; B Udd; S L Marklund
Journal:  Brain       Date:  1996-08       Impact factor: 13.501

2.  Benefit of vitamin E, riluzole, and gabapentin in a transgenic model of familial amyotrophic lateral sclerosis.

Authors:  M E Gurney; F B Cutting; P Zhai; A Doble; C P Taylor; P K Andrus; E D Hall
Journal:  Ann Neurol       Date:  1996-02       Impact factor: 10.422

3.  Toxic mutants in Charcot's sclerosis.

Authors:  D W Cleveland; N Laing; P V Hurse; R H Brown
Journal:  Nature       Date:  1995-11-23       Impact factor: 49.962

4.  Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis.

Authors:  M Wiedau-Pazos; J J Goto; S Rabizadeh; E B Gralla; J A Roe; M K Lee; J S Valentine; D E Bredesen
Journal:  Science       Date:  1996-01-26       Impact factor: 47.728

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

Authors:  Z E Enayat; R W Orrell; A Claus; A Ludolph; R Bachus; J Brockmüller; K Ray-Chaudhuri; A Radunovic; C Shaw; J Wilkinson
Journal:  Hum Mol Genet       Date:  1995-07       Impact factor: 6.150

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

Authors:  K Abe; M Aoki; M Ikeda; M Watanabe; S Hirai; Y Itoyama
Journal:  J Neurol Sci       Date:  1996-03       Impact factor: 3.181

7.  Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro.

Authors:  J Busciglio; B A Yankner
Journal:  Nature       Date:  1995 Dec 21-28       Impact factor: 49.962

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

Authors:  G A Rouleau; A W Clark; K Rooke; A Pramatarova; A Krizus; O Suchowersky; J P Julien; D Figlewicz
Journal:  Ann Neurol       Date:  1996-01       Impact factor: 10.422

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

Authors:  D R Rosen; A C Bowling; D Patterson; T B Usdin; P Sapp; E Mezey; D McKenna-Yasek; J O'Regan; Z Rahmani; R J Ferrante
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

10.  Absence of mutations in superoxide dismutase and catalase genes in patients with Parkinson's disease.

Authors:  J S Parboosingh; M Rousseau; F Rogan; Z Amit; H Chertkow; W G Johnson; F Manganaro; H N Schipper; T J Curran; J Stoessl
Journal:  Arch Neurol       Date:  1995-12
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  18 in total

Review 1.  The mitochondrial permeability transition in neurologic disease.

Authors:  M D Norenberg; K V Rama Rao
Journal:  Neurochem Int       Date:  2007-03-04       Impact factor: 3.921

2.  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.

Authors:  C Hayward; D J Brock; R A Minns; R J Swingler
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

3.  Quantum chemical and molecular mechanics studies on the assessment of interactions between resveratrol and mutant SOD1 (G93A) protein.

Authors:  E Srinivasan; R Rajasekaran
Journal:  J Comput Aided Mol Des       Date:  2018-10-28       Impact factor: 3.686

Review 4.  Dysregulation of IGF-1/GLP-1 signaling in the progression of ALS: potential target activators and influences on neurological dysfunctions.

Authors:  Ambika Shandilya; Sidharth Mehan
Journal:  Neurol Sci       Date:  2021-05-21       Impact factor: 3.307

Review 5.  Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.

Authors:  C Maurel; A Dangoumau; S Marouillat; C Brulard; A Chami; R Hergesheimer; P Corcia; H Blasco; C R Andres; P Vourc'h
Journal:  Mol Neurobiol       Date:  2018-01-10       Impact factor: 5.590

6.  Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.

Authors:  Ralf Giess; Bettina Holtmann; Massimiliano Braga; Tiemo Grimm; Bertram Müller-Myhsok; Klaus V Toyka; Michael Sendtner
Journal:  Am J Hum Genet       Date:  2002-04-09       Impact factor: 11.025

7.  A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.

Authors:  Masataka Nakamura; Kevin F Bieniek; Wen-Lang Lin; Neill R Graff-Radford; Melissa E Murray; Monica Castanedes-Casey; Pamela Desaro; Matthew C Baker; Nicola J Rutherford; Janice Robertson; Rosa Rademakers; Dennis W Dickson; Kevin B Boylan
Journal:  Acta Neuropathol       Date:  2015-04-28       Impact factor: 17.088

8.  Computational Investigation on Electrostatic Loop Mutants Instigating Destabilization and Aggregation on Human SOD1 Protein Causing Amyotrophic Lateral Sclerosis.

Authors:  E Srinivasan; R Rajasekaran
Journal:  Protein J       Date:  2019-02       Impact factor: 2.371

9.  Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant.

Authors:  T L Williamson; L I Bruijn; Q Zhu; K L Anderson; S D Anderson; J P Julien; D W Cleveland
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

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

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