Literature DB >> 8528216

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

Z E Enayat1, R W Orrell, A Claus, A Ludolph, R Bachus, J Brockmüller, K Ray-Chaudhuri, A Radunovic, C Shaw, J Wilkinson.   

Abstract

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Year:  1995        PMID： 8528216     DOI： 10.1093/hmg/4.7.1239

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


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  12 in total

Review 1.  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

Review 2.  From animal models to human disease: a genetic approach for personalized medicine in ALS.

Authors:  Vincent Picher-Martel; Paul N Valdmanis; Peter V Gould; Jean-Pierre Julien; Nicolas Dupré
Journal:  Acta Neuropathol Commun       Date:  2016-07-11       Impact factor: 7.801

3.  An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member.

Authors:  Francesca Trojsi; Giovanni Piccirillo; Cinzia Femiano; Raffaele Damiano; Maria Rosaria Monsurrò
Journal:  Acta Myol       Date:  2013-05

4.  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

Review 5.  Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis.

Authors:  Sai V Seetharaman; Mercedes Prudencio; Celeste Karch; Stephen P Holloway; David R Borchelt; P John Hart
Journal:  Exp Biol Med (Maywood)       Date:  2009-07-13

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

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

Review 7.  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

8.  Activation of the Nrf2-ARE pathway in muscle and spinal cord during ALS-like pathology in mice expressing mutant SOD1.

Authors:  Andrew D Kraft; Jon M Resch; Delinda A Johnson; Jeffrey A Johnson
Journal:  Exp Neurol       Date:  2007-06-12       Impact factor: 5.330

9.  Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Authors:  Bradley N Smith; Simon D Topp; Claudia Fallini; Hideki Shibata; Han-Jou Chen; Claire Troakes; Andrew King; Nicola Ticozzi; Kevin P Kenna; Athina Soragia-Gkazi; Jack W Miller; Akane Sato; Diana Marques Dias; Maryangel Jeon; Caroline Vance; Chun Hao Wong; Martina de Majo; Wejdan Kattuah; Jacqueline C Mitchell; Emma L Scotter; Nicholas W Parkin; Peter C Sapp; Matthew Nolan; Peter J Nestor; Michael Simpson; Michael Weale; Monkel Lek; Frank Baas; J M Vianney de Jong; Anneloor L M A Ten Asbroek; Alberto Garcia Redondo; Jesús Esteban-Pérez; Cinzia Tiloca; Federico Verde; Stefano Duga; Nigel Leigh; Hardev Pall; Karen E Morrison; Ammar Al-Chalabi; Pamela J Shaw; Janine Kirby; Martin R Turner; Kevin Talbot; Orla Hardiman; Jonathan D Glass; Jacqueline De Belleroche; Masatoshi Maki; Stephen E Moss; Christopher Miller; Cinzia Gellera; Antonia Ratti; Safa Al-Sarraj; Robert H Brown; Vincenzo Silani; John E Landers; Christopher E Shaw
Journal:  Sci Transl Med       Date:  2017-05-03       Impact factor: 19.319

10.  Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Authors:  Qi Wang; Joshua L Johnson; Nathalie Y R Agar; Jeffrey N Agar
Journal:  PLoS Biol       Date:  2008-07-29       Impact factor: 8.029
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