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Huntington's disease – neuropathology
2011An expansion of a trinucleotide CAG repeat on chromosome 4 causes Huntington disease. The abnormal elongation of the CAG increases the polyglutamine stretch of huntingtin, which becomes proportionally toxic. The mutated huntingtin is ubiquitous in somatic tissues, yet the pathologic changes are apparently restricted to the brain.
Jean Paul G, Vonsattel +2 more
openaire +2 more sources
2001
Huntington’s disease is a devastating autosomal-dominant neurodegenerative condition caused by the abnormal expansion of a polyglutamine tract in the huntingtin protein. Its epidemiology and clinical features are reviewed. A range of possible mechanisms for the disease is discussed and treatment prospects considered.
openaire +1 more source
Huntington’s disease is a devastating autosomal-dominant neurodegenerative condition caused by the abnormal expansion of a polyglutamine tract in the huntingtin protein. Its epidemiology and clinical features are reviewed. A range of possible mechanisms for the disease is discussed and treatment prospects considered.
openaire +1 more source
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
Nature Reviews Neurology, 2020Sarah J Tabrizi, Edward J Wild
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Huntington disease: natural history, biomarkers and prospects for therapeutics
Nature Reviews Neurology, 2014Edward J Wild +2 more
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Therapeutic approaches to Huntington disease: from the bench to the clinic
Nature Reviews Drug Discovery, 2018Earl Ray Dorsey, Michael R Hayden
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Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington’s disease
Nature, 2014Bindu D Paul +2 more
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