Macquarie University, Sydney Macquarie University ResearchOnline

Showing items 1 - 6 of 6.

Add to Quick Collection   All 6 Results

  • First
  • Previous
  • 1
  • Next
  • Last
Sort:
 Add All Items to Quick Collection
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: 2011
Subject Keyword: 110300 Clinical Sciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/146161
Description: Objective: To determine clinically related characteristics in patients with pure lower motor neuron (LMN) syndromes, not fulfilling accepted diagnostic criteria, who were likely to respond to intraven ... More
Full Text: Full Text
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: 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
  • First
  • Previous
  • 1
  • Next
  • Last