Results 101 to 110 of about 4,082,283 (306)

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

open access: yesFEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill   +6 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Blood RNA Biomarker Signatures for Early Diagnosis and Prognosis in Ischemic and Hemorrhagic Stroke: The IBIS‐CT1 Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau   +11 more
wiley   +1 more source

Graph Kernel Neural Networks [PDF]

open access: yes
The convolution operator at the core of many modern neural architectures can effectively be seen as performing a dot product between an input matrix and a filter.
Bicciato, Alessandro   +14 more
core   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

Incidence, Risk Factors and Management of Adverse Events in Contemporary Real‐World Care of Children with Juvenile Idiopathic Arthritis

open access: yesArthritis Care &Research, Accepted Article.
Objective We describe the frequency, risk factors, severity, and management of actionable and serious adverse events (AAE and SAE) in children with newly diagnosed Juvenile Idiopathic Arthritis (JIA) in Canada. Methods We enrolled patients within 3 months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry,
Bashayer Alnuaimi   +10 more
wiley   +1 more source

Graph Structure of Neural Networks

open access: yesCoRR, 2020
Neural networks are often represented as graphs of connections between neurons. However, despite their wide use, there is currently little understanding of the relationship between the graph structure of the neural network and its predictive performance.
Jiaxuan You   +3 more
openaire   +3 more sources

A Comparison between Invariant and Equivariant Classical and Quantum Graph Neural Networks

open access: yesAxioms
Machine learning algorithms are heavily relied on to understand the vast amounts of data from high-energy particle collisions at the CERN Large Hadron Collider (LHC). The data from such collision events can naturally be represented with graph structures.
Roy T. Forestano   +10 more
doaj   +1 more source

Graph neural networks for network analysis [PDF]

open access: yes
With an increasing number of applications where data can be represented as graphs, graph neural networks (GNNs) are a useful tool to apply deep learning to graph data.
He, Yixuan
core   +1 more source

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