Journal Article

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2023-02-06
17:49
DBCoverage [DZNE-2023-00210] Journal Article
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Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis.
Spinal muscular atrophy (SMA) is a disabling disease that affects not only the patient's health-related quality of life (HRQoL), but also causes a high caregiver burden (CGB). The aim of this study was to evaluate HRQoL, CGB, and their predictors in SMA. [...]

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2023-02-06
17:46
DBCoverage [DZNE-2023-00209] Journal Article
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Case report: Amnestic mild cognitive impairment in multiple domains associated with neurofascin 186 autoantibodies: Case series with follow-up and review.
Neurofascin 186 autoantibodies are known to occur with a diseased peripheral nervous system. Recently, also additional central nervous system (CNS) involvement has been reported in conjunction with neurofascin 186 autoantibodies. [...]

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2023-02-06
17:43
DBCoverage [DZNE-2023-00208] Journal Article
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Development of sex- and genotype-specific behavioral phenotypes in a Shank3 mouse model for neurodevelopmental disorders.
Individuals with a SHANK3-related neurodevelopmental disorder, also termed Phelan-McDermid syndrome or abbreviated as PMS, exhibit significant global developmental delay, language impairment, and muscular hypotonia. Also common are repetitive behaviors and altered social interactions, in line with a diagnosis of autism spectrum disorders. [...]

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2023-02-06
17:42
DBCoverage [DZNE-2023-00207] Journal Article
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Nicotinamide as potential biomarker for Alzheimer's disease: A translational study based on metabolomics.
Introduction: The metabolic routes altered in Alzheimer's disease (AD) brain are poorly understood. As the metabolic pathways are evolutionarily conserved, the metabolic profiles carried out in animal models of AD could be directly translated into human studies. [...]

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2023-02-06
17:40
DBCoverage [DZNE-2023-00206] Journal Article
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Cerebellar granule neurons induce Cyclin D1 before the onset of motor symptoms in Huntington's disease mice.
Although Huntington's disease (HD) is classically defined by the selective vulnerability of striatal projection neurons, there is increasing evidence that cerebellar degeneration modulates clinical symptoms. However, little is known about cell type-specific responses of cerebellar neurons in HD. [...]

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2023-02-06
17:36
DBCoverage [DZNE-2023-00205] Journal Article
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Efficacy and safety of the novel GlyT1 inhibitor BI 425809 in Alzheimer's dementia: a randomized controlled trial.
This phase II proof-of-concept study assessed the efficacy and safety of BI 425809, a novel selective glycine transporter-1 inhibitor, for the treatment of cognitive impairment associated with probable Alzheimer's disease dementia.This 12-week, multicenter, double-blind, placebo-controlled, parallel-group study randomized (1:1:1:1:1) patients with mild-to-moderate probable Alzheimer's disease dementia to BI 425809 2, 5, 10, and 25 mg or placebo once daily. The primary efficacy endpoint was the change from baseline in Alzheimer's Disease Assessment Scale-Cognitive Subscale 11-item total score after 12 weeks of treatment. [...]

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2023-02-06
17:35
DBCoverage [DZNE-2023-00204] Journal Article
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Chaperoning of specific tau structure by immunophilin FKBP12 regulates the neuronal resilience to extracellular stress.
Science advances 9(5), eadd9789 () [10.1126/sciadv.add9789]
Alzheimer's disease and related tauopathies are characterized by the pathogenic misfolding and aggregation of the microtubule-associated protein tau. Understanding how endogenous chaperones modulate tau misfolding could guide future therapies. [...]

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2023-02-06
17:32
[DZNE-2023-00203] Journal Article (Review Article)
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Pharmacologic treatment of depression in Alzheimer's disease.
Major depressive disorder and Alzheimer's disease are common among older people, frequently co-occur and severely impact the quality of life. Unfortunately, data on the efficacy of pharmacologic treatment of depressive symptoms in patients with the neurodegenerative disease remain inconclusive. [...]

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2023-02-06
17:30
[DZNE-2023-00202] Journal Article
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Genetically downregulated Interleukin-6 signalling is associated with a lower risk of frailty.
Age & ageing 52(1), afac318 () [10.1093/ageing/afac318]
numerous studies point towards a critical role of Interleukin 6 (IL-6) pathway in frailty pathogenesis yet the causal relationship between the two remains elusive.we selected genetic variants near the IL-6 receptor locus (IL-6R) associated with reduced C-reactive protein (CRP) levels, a downstream effector of IL-6 pathway, and we used them as genetic proxies of IL-6 signalling downregulation. We then performed a two-sample Mendelian randomisation (MR) to investigate the association with frailty status, as defined by the Frailty Index (FI) in 11,171 individuals from the Hellenic Longitudinal Investigation of Ageing and Diet (HELIAD) study. [...]

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2023-02-06
17:26
DBCoverage [DZNE-2023-00201] Journal Article
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Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. [...]

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