Results 61 to 70 of about 2,958 (128)
Neurobiology of Disease, 2016 Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk ...
Nesli Ece Sen +10 more
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GluN3A promotes NMDA spiking by enhancing synaptic transmission in Huntington's disease models
Neurobiology of Disease, 2016 Age-inappropriate expression of juvenile NMDA receptors (NMDARs) containing GluN3A subunits has been linked to synapse loss and death of spiny projection neurons of the striatum (SPNs) in Huntington's disease (HD).
Kashif Mahfooz +5 more
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Huntington's disease: a clinical review
Orphanet Journal of Rare Diseases, 2010 Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.
Roos Raymund AC
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Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO +4 more
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Clinical and genetic study of a juvenile⁃onset Huntington disease
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Background Huntington's disease (HD) is an autosomal dominant hereditary progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dementia, cognitive and affective impairment.
Ying HAO +8 more
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A Case Report of Response to Quetiapine Treatment in Neuropsychiatric Manifestations of Juvenile Huntington\'s Disease (JHD) [PDF]
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i BābulBackground and Objective: Juvenile Huntington’s disease (JHD) represents a rare form of neurodegenerative genetic disorder characterized by potential neuropsychiatric symptoms.
TMS Tengku Kamarulbahri, F Rahim
doaj
The MicrobeThe CRISPR-Cas systems, initially identified as bacterial defense mechanisms, have become innovative tools for genetic research and translational therapeutics. These systems are made up of clustered regularly interspaced short palindromic repeats (CRISPR)
Kamran Saeed +3 more
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