Search Results - "Huntington's disease"

Biomarkers for Huntington's disease promises and challenges /

Table of Contents: “…Contents: Summary of the genetic, pathophysiology and clinical features of Huntington's disease -- Potential drug targets in development for Huntington's disease -- The importance of biomarkers in Huntington's disease -- Current biomarkers in development in Huntington's disease.…”
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The molecular biology of Huntington's disease

Subjects: “…Huntington's disease. 90221…”
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Autosomal dominant inheritance

Table of Contents: “…Contents: Autosomal dominant disorders -- Genetics -- Inheritance -- Genetic disorders -- Osteogenesis imperfecta -- RASopathies -- Huntington disease -- Penetrance -- De novo mutations.…”
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Challenges in genetic testing

Table of Contents: “…Contents: Genetic testing -- Ethical issues -- Clinical scenarios of genetic testing -- Lynch Syndrome -- Huntington's Disease -- EOFAD -- Indirect genetic testing -- Genetics counselling.…”
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Microsatellite and trinucleotide repeat expansion diseases

Table of Contents: “…Contents: Mendelian neurodegenerative diseases are caused by repeat expansions -- The mutation can result in gain-of-function or loss-of-function -- Fragile X syndrome -- Myotonic dystrophy -- Huntington's disease -- Friedrich's ataxia -- C9orf72.…”
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Mitochondrial disorders and neurodegeneration

Table of Contents: “…Contents: Spectrum of mitochondrial diseases -- Mitochondrial metabolic pathway -- MtDNA mutations and disease -- Pathological features -- MELAS -- Genetic epidemiology of mtDNA mutations -- Structural components of respiratory chain complexes -- Mitochondrial DNA metabolism -- Mitochondrial proteins and oxidative phosphorylation -- Fatal mtDNA depletion syndrome -- POLG mutations -- Environmental influences on PD causation -- PARK genes -- Huntington's disease and mtDNA mutations -- Genetic basis of Friedreich's ataxia -- Mitochondrial toxins.…”
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Series (Mitochondrial biogenesis)
Series (Neurodegenerative diseases)