2025-05-15 10:31 |
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2025-05-02 13:32 |
[DZNE-2025-00581]
Journal Article
Martiskainen, H. ; Willman, R.-M. ; Harju, P. ; et al
Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.
Biallelic loss-of-function variants in TYROBP and TREM2 cause autosomal recessive presenile dementia with bone cysts known as Nasu-Hakola disease (NHD, alternatively polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL). Some other TREM2 variants contribute to the risk of Alzheimer's disease (AD) and frontotemporal dementia, while deleterious TYROBP variants are globally extremely rare and their role in neurodegenerative diseases remains unclear. [...]
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2025-05-02 13:29 |
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2025-05-02 13:27 |
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2025-05-02 13:24 |
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2025-05-02 13:16 |
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2025-05-02 13:14 |
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2025-05-02 13:11 |
[DZNE-2025-00575]
Journal Article
Beijer, D. ; Mengel, D. ; Önder, D. ; et al
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
While most sporadic adult-onset neurodegenerative diseases have only a minor monogenic component, given several recently identified late adult-onset ataxia genes, the genetic burden may be substantial in sporadic adult-onset ataxias. We report systematic mapping of the genetic landscape of sporadic adult-onset ataxia in a well-characterised, multi-centre cohort, combining several multi-modal genetic screening techniques, plus longitudinal natural history data.Systematic clinico-genetic analysis of a prospective longitudinal multi-centre cohort of 377 consecutive patients with sporadic adult-onset ataxia (SPORTAX cohort), including clinically defined sporadic adult-onset ataxia of unknown aetiology (SAOA) (n = 229) and 'clinically probable multiple system atrophy of cerebellar type' (MSA-Ccp) (n = 148). [...]
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2025-04-29 14:42 |
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2025-04-29 14:37 |
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