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Date: 2016
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1072379
Description: Background: Recognizing the cause of optic neuritis (ON) affects treatment decisions and visual outcomes. Objective: We aimed to define radiological features of first-episode demyelinating ON. Methods ... More
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110300 Clinical Sciences | Genetics | Risk | SOD1
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314725
Description: Although anticipation has been previously reported in the copper/zinc superoxide dismutase-1 (SOD1) associated familial amyotrophic lateral sclerosis (FALS), some have argued that this may represent a ... More
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314741
Description: Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remai ... More
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110300 Clinical Sciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/288671
Description: Genome-wide association studies (GWAS) have identified around 60 common variants associated with multiple sclerosis (MS), but these loci only explain a fraction of the heritability of MS. Some missing ... More
Full Text: Full Text
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/274726
Description: Objective: Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases. We sought to examine clinic ... More
Reviewed: Reviewed
Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/117593
Description: Objective: Diffusion tensor imaging (DTI) recently identified structural abnormalities of corticomotoneurons in asymptomatic copper/zinc superoxide-dismutase-1 (SOD-1) gene mutation carriers. The pote ... More
Reviewed: Reviewed
Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/221579
Description: Objective: FUS gene mutations were recently identified in familial amyotrophic lateral sclerosis (ALS). The present studies sought to define the clinical, post-mortem and neurophysiological phenotypes ... More
Reviewed: Reviewed
Date: 2010
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/294221
Description: Multiple sclerosis (MS) is an autoimmune disease with a genetic component, caused at least in part by aberrant lymphocyte activity. The whole blood mRNA transcriptome was measured for 99 untreated MS ... More
Reviewed: Reviewed
Date: 2008
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314286
Description: Familial amyotrophic lateral sclerosis (FALS) is an inherited neurodegenerative disorder of the motor neurons. While 10–15% of cases are caused by mutations in the copper/zinc superoxide-dismutase-1 ( ... More
Reviewed: Reviewed
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