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Date: 2016
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/1108612
Description: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are overlapping, fatal neurodegenerative disorders in which the molecular and pathogenic basis remains poorly understood. Ubiquiti ... More
Full Text: Full Text
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/276103
Description: Amyotrophic lateral sclerosis (ALS) is a devastating neurological disorder characterized by the degeneration of motor neurons and typically results in death within 3-5 years from onset. Familial ALS ( ... More
Reviewed: Reviewed
Date: 2013
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/314835
Description: We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c. ... More
Reviewed: Reviewed
Date: 2013
Subject Keyword: 110900 Neurosciences
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/315013
Description: Background: Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal ... 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
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