Results 91 to 100 of about 5,067,156 (162)
Frontiers in Cellular Neuroscience, 2018 Huntington’s disease (HD) is an autosomal-dominant inherited neurodegenerative disorder characterized by motor, psychiatric and cognitive symptoms. HD is caused by an expansion of CAG repeats in the huntingtin (HTT) gene in various areas of the brain ...
Minhee Jang +3 more
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Raman spectroscopy of fibroblast cells from a Huntington’s disease patient
, 2015 Raw dataset for Downes (2015) "Raman spectroscopy of fibroblast cells from a Huntington’s disease patient" In Submission. Set of Raman spectra from 20 individual cells from a patient with Huntington's disease (GM04281, Coriell Cell repository) and from ...
Downes, Andy
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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
doaj +1 more source
A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]
, 2010 Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group +15 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
doaj +1 more source
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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Huntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner.
Krygier, Magdalena +8 more
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, 2015 application/pdf; "November 2015."; Includes bibliographical references."Two recent reports called attention to the high costs and unsatisfactory outcomes of Kansas’s juvenile justice system. ...
Kansas Juvenile Justice Workgroup.
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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
doaj
Electrophysiological biomarkers in genetic movement disorders [PDF]
, 2008 BACKGROUND. Neurodegenerative diseases are diseases of the nervous system with progressive course leading to death. Treatment remains symptomatic. Development of neuroprotective agents has been hampered for various reasons. This includes the inability of
Schneider, K.S.A.I.M
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