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The molecular genetics of the tauopathies
Experimental Gerontology, 2000The identification of mutations in the tau gene in frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) demonstrated that there is a direct link between tau dysfunction and neurodegeneration. At least 11 missense mutations and a three base pair deletion (DeltaK280) have been identified in exons 9-13. Additionally, five splice site
M, van Slegtenhorst, J, Lewis, M, Hutton
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Neuropathology of familial tauopathy
Neuropathology, 2006Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) is a hereditary progressive neurodegenerative disorder. FTDP‐17 was originally defined in Ann Arbor, Michigan, in 1996. Since then, more than 100 families with FTDP‐17 have been described throughout the world, including 18 families identified in Japan.
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Journal of Alzheimer's Disease, 2013
Tauopathies are neurodegenerative diseases characterized behaviorally by dementia and neuropathologically by neurofibrillary tangles and neuronal loss. Tau gene mutations have been found in frontotemporal dementia with parkinsonism linked to chromosome 17, suggesting that mutation of tau induces tauopathy.
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Tauopathies are neurodegenerative diseases characterized behaviorally by dementia and neuropathologically by neurofibrillary tangles and neuronal loss. Tau gene mutations have been found in frontotemporal dementia with parkinsonism linked to chromosome 17, suggesting that mutation of tau induces tauopathy.
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X-linked ubiquitin-specific peptidase 11 increases tauopathy vulnerability in women
Cell, 2022Dale Chaput +2 more
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The many faces of globular glial tauopathy: A clinical and imaging study
European Journal of Neurology, 2023Marina Buciuc +2 more
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Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains
Cell, 2020Yari Carlomagno +2 more
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