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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: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213382
Description: Phenotypic variation in amyotrophic lateral sclerosis (ALS) is common, and one atypical form is the flail arm variant (FAV). Some classic ALS patients carry TARDBP mutations, and so we sought to estab ... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/212817
Description: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been connected to ALS. These ... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213361
Description: Mutations in the optineurin gene (OPTN) have been reported in rare familial and sporadic amyotrophic lateral sclerosis (ALS) cases. It is yet to be established whether mutations segregate with dominan ... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213385
Description: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive loss of motor neurons in the motor cortex, brain stem and spinal cord. Mutations in the valos ... More
Reviewed: Reviewed
Date: 2012
Subject Keyword: 110300 Clinical Sciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314659
Description: Objective: To determine whether the presence of Machado-Joseph disease (MJD, also spinocerebellar ataxia type 3 [SCA3]) among Australian aborigines was caused by a new mutational event or by the intro ... More
Reviewed: Reviewed
Date: 2012
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314692
Description: Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is an autosomal-dominant neurodegenerative disorder characterized by widespread fasciculations, proximal-predominant ... More
Reviewed: Reviewed
Date: 2012
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/213399
Description: Amyotrophic lateral sclerosis (ALS) shows clinical and pathological overlap with frontotemporal dementia that includes the presence of hallmark ubiquitinated inclusions in affected neurons. Mutations ... More
Reviewed: Reviewed
Date: 2011
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314569
Description: Hereditary sensory and autonomic neuropathy type II (HSANII) is a rare autosomal-recessive disorder characterized by peripheral nerve degeneration resulting in a severe distal sensory loss. Although m ... More
Reviewed: Reviewed
Date: 2011
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314560
Description: DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene regulation and chromatin stability. DNA mismatch repair, cell cycle regulation in post-mitotic neurons and neurogenesis ... More
Reviewed: Reviewed
Date: 2010
Subject Keyword: 110300 Clinical Sciences | ALS | MUNE | Biomarker | SOD1
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314391
Description: ALS is a fatal disease with variable clinical course. There is no single reliable marker of disease progression. Sufficient records were available to study the case history of four family members with ... More
Reviewed: Reviewed
Date: 2010
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314390
Description: MRI shows areas where muscle has been replaced by fat, a process which occurs in neuropathies. The purpose of this study was to investigate the usefulness of MRI in assessing disease severity in Charc ... 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
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/221588
Description: The fused in sarcoma/translocated in liposarcoma (FUS/TLS) gene was initially identified as a component of a fusion pro-oncogene resulting from a chromosomal translocation seen in liposarcomas. FUS/TL ... More