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Hereditary Neurodegenerative Disorder

An inherited disorder characterized by progressive degeneration and atrophy of the nervous system.
National Institutes of Health

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2 relations
Central Nervous SystemNervous system structure

Papers overview

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Highly Cited
2016
Highly Cited
2016
Manifestation of Huntington’s disease pathology in human induced pluripotent stem cell-derived neurons
BackgroundHuntington’s disease (HD) is an incurable hereditary neurodegenerative disorder, which manifests itself as a loss of… Expand
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2014
2014
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Pathological accumulation of intermediate filaments can be observed in neurodegenerative disorders, such as Alzheimer's disease… Expand
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2013
2013
Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy.
Spinal and bulbar muscular atrophy, also known as Kennedy's disease, is an adult-onset hereditary neurodegenerative disorder… Expand
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2009
2009
Cortical excitability in hereditary motor neuronopathy with pyramidal signs: comparison with ALS
Background: Distal hereditary motor neuronopathy with pyramidal features (dHMNP) is a hereditary neurodegenerative disorder… Expand
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Highly Cited
2009
Highly Cited
2009
Increased hypothalamic-pituitary-adrenal axis activity in Huntington's disease.
CONTEXT Huntington's disease (HD) is a fatal hereditary neurodegenerative disorder characterized by motor, cognitive, and… Expand
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Highly Cited
2007
Highly Cited
2007
In vivo maturation of human frataxin.
The defective expression of frataxin causes the hereditary neurodegenerative disorder Friedreich's ataxia (FRDA). Human frataxin… Expand
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Highly Cited
2005
Highly Cited
2005
Proteomic Analysis of Protein Expression and Oxidative Modification in R6/2 Transgenic Mice
Huntington disease (HD) is a hereditary neurodegenerative disorder characterized by motor, psychiatric, and cognitive symptoms… Expand
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Review
2004
Review
2004
The Energetics of Huntington's Disease
Huntington's disease (HD) is a hereditary neurodegenerative disorder that gradually robs sufferers of the ability to control… Expand
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Highly Cited
1999
Highly Cited
1999
Transgenic mice expressing a Huntington's disease mutation are resistant to quinolinic acid-induced striatal excitotoxicity.
Huntington's disease (HD) is a hereditary neurodegenerative disorder presenting with chorea, dementia, and extensive striatal… Expand
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1996
1996
Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.
Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other… Expand
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