Publications Database

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2025-05-15
10:31
[DZNE-2025-00607] Dissertation / PhD Thesis

Identification of compensatory mechanisms and disease pathways in mitochondrial disease and synucleinopathy
97 p. () = Dissertation, Rheinische Friedrich-Wilhelms-Universität Bonn, 2025
Mitochondria play vital roles in a variety of processes such as cellular metabolism, intracellular signalling and cell death. Defects in mitochondria can lead to inherited metabolic disorders and neurodegenerative diseases. [...]
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2025-05-02
13:32
OpenAccess [DZNE-2025-00581] Journal Article
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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
OpenAccess [DZNE-2025-00580] Journal Article
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Radioiodine Exhalation Following Oral I-131 Administration in a Mouse Model.
Background: The exhalation of radioiodine following radioiodine therapy (RIT) presents a challenge in radiation protection, though the mechanisms remain incompletely understood. Previous studies have indicated that radioiodine is predominantly exhaled in an organically bound form in humans. [...]

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2025-05-02
13:27
OpenAccess [DZNE-2025-00579] Journal Article (Review Article)
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Brain health services for the secondary prevention of cognitive impairment and dementia: Opportunities, challenges, and the business case for existing and future facilities.
A European Task Force has recently developed and published the concept and protocols for the setup of the innovative health offer of Brain Health Services for the secondary prevention of dementia and cognitive impairment (dBHS). dBHS are outpatient health care facilities where adult persons can find an assessment of their risk of developing cognitive impairment and dementia, have their risk level and contributing factors communicated using appropriate language supported by adequate communication tools, can decide to participate to programs for personalized risk reduction if at higher risk, and benefit from cognitive enhancement interventions. [...]
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2025-05-02
13:24
OpenAccess [DZNE-2025-00578] Journal Article
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Lessons learned from the participatory development of a framework to actively involve people living with dementia, individuals from their social networks, and healthcare professionals in systematic reviews: the DECIDE-SR study.
To date, there is no framework for actively involving people living with dementia, individuals from their social networks and healthcare professionals in systematic reviews (SRs). Additionally, no SRs have been planned or partially carried out with the active involvement of these individuals. [...]

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2025-05-02
13:16
OpenAccess [DZNE-2025-00577] Journal Article
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Motor and cognitive function after unipolar depressive episodes: a 6 years longitudinal observational study.
Unipolar depression is a frequent psychiatric disorder and associated with cognitive and motor deficits. It is also a prodromal or risk marker for various neurodegenerative diseases. [...]
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2025-05-02
13:14
OpenAccess [DZNE-2025-00576] Journal Article (Letter)
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Addendum: Myelin insulation as a risk factor for axonal degeneration in autoimmune demyelinating disease.
Addendum to: Nature Neuroscience https://doi.org/10.1038/s41593-023-01366-9, published online 29 June 2023..
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2025-05-02
13:11
OpenAccess [DZNE-2025-00575] Journal Article
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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
[DZNE-2025-00574] Journal Article
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Thrombectomy With Low ASPECTS: The Roles of Infarct Volume and Postacute Neurological Status.
Stroke 56(5), 1116 - 1127 () [10.1161/STROKEAHA.124.050052]
Recent randomized trials demonstrated the beneficial effect of endovascular therapy in patients with low Alberta Stroke Program Early CT Score. Despite large follow-up infarct volumes, a significantly increased rate of good functional outcomes was observed, challenging the role of infarct volume as a predictive imaging marker. [...]

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2025-04-29
14:37
OpenAccess [DZNE-2025-00573] Journal Article
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X-Ray Photon Correlation Spectroscopy, Microscopy, and Fluorescence Recovery After Photobleaching to Study Phase Separation and Liquid-to-Solid Transition of Prion Protein Condensates.
Bio-protocol 15(8), e5277 () [10.21769/BioProtoc.5277]
Biomolecular condensates are macromolecular assemblies constituted of proteins that possess intrinsically disordered regions and RNA-binding ability together with nucleic acids. These compartments formed via liquid-liquid phase separation (LLPS) provide spatiotemporal control of crucial cellular processes such as RNA metabolism. [...]
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