Rare Neurodegenerative Diseases: Clinical and Genetic Update.
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DOI: 10.1007/978-3-319-67144-4_25
Abstract: More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system.… read more here.
Keywords: disease; neurodegenerative diseases; clinical genetic; diseases clinical ... See more keywords
Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases
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DOI: 10.1016/j.jmb.2020.02.033
Abstract: Rare genetic diseases affect a limited number of patients, but their etiology is often known, facilitating the development of reliable animal models and giving the opportunity to investigate physiopathology. Lysosomal storage disorders are a group… read more here.
Keywords: neurodegenerative diseases; alteration; lysosome function; autophagy ... See more keywords
A Review of Neuroimaging in Rare Neurodegenerative Diseases
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DOI: 10.1159/000512543
Abstract: Purpose: Due to the variety of clinical symptoms that occur in rare neurodegenerative diseases and difficulties in the correct diagnosis, there is a need to learn their characteristic imaging findings by using conventional MRI. That… read more here.
Keywords: diagnosis; neuroimaging rare; neurodegenerative diseases; review neuroimaging ... See more keywords