Literature DB >> 14755739

Disease penetrance in amyotrophic lateral sclerosis associated with mutations in the SOD1 gene.

Peter M Andersen, Gabriella Restagno, Heather G Stewart, Adriano Chiò.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2004        PMID： 14755739     DOI： 10.1002/ana.10850

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  5 in total

1.  Predictive genetic testing for Motor neuron disease: time for a guideline?

Authors:  Alisdair McNeill; Maria-Del-Mar Amador; Hilary Bekker; Angus Clarke; Ashley Crook; Cathy Cummings; Alison McEwen; Christopher McDermott; Oliver Quarrell; Alessandra Renieri; Jennifer Roggenbuck; Kristiana Salmon; Alexander Volk; Jochen Weishaupt
Journal:  Eur J Hum Genet       Date:  2022-04-05       Impact factor: 5.351

2.  Superoxide dismutase 1 and tgSOD1 mouse spinal cord seed fibrils, suggesting a propagative cell death mechanism in amyotrophic lateral sclerosis.

Authors:  Ruth Chia; M Howard Tattum; Samantha Jones; John Collinge; Elizabeth M C Fisher; Graham S Jackson
Journal:  PLoS One       Date:  2010-05-13       Impact factor: 3.240

3.  Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Igor Braga Farias; Bruno de Mattos Lombardi Badia; Icaro França Navarro Pinto; Gustavo Carvalho Costa; Carolina Maria Marin; Ana Carolina Dos Santos Jorge; Emília Correia Souto; Paulo de Lima Serrano; Roberta Ismael Lacerda Machado; Marco Antônio Troccoli Chieia; Enrico Bertini; Acary Souza Bulle Oliveira
Journal:  Orphanet J Rare Dis       Date:  2021-08-11       Impact factor: 4.123

Review 4.  Genetic testing in motor neurone disease.

Authors:  Thanuja Dharmadasa; Jakub Scaber; Evan Edmond; Rachael Marsden; Alexander Thompson; Kevin Talbot; Martin R Turner
Journal:  Pract Neurol       Date:  2022-01-13

5.  Respiratory onset of amyotrophic lateral sclerosis in a pregnant woman with a novel SOD1 mutation.

Authors:  Pegah Masrori; Simona Ospitalieri; Karin Forsberg; Thomas G Moens; Koen Poesen; Valerie Race; Thomas Brännström; Peter M Andersen; Dietmar R Thal; Philip Van Damme
Journal:  Eur J Neurol       Date:  2022-04       Impact factor: 6.288
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.