Results 171 to 180 of about 1,302,695 (334)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Locally nice embeddings in codimension three [PDF]

open access: gold, 1968
John Bryant, C. L. Seebeck
openalex   +1 more source

ICU‐EEG Pattern Detection by a Convolutional Neural Network

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients in the intensive care unit (ICU) often require continuous EEG (cEEG) monitoring due to the high risk of seizures and rhythmic and periodic patterns (RPPs). However, interpreting cEEG in real time is resource‐intensive and heavily relies on specialized expertise, which is not always available.
Giulio Degano   +5 more
wiley   +1 more source

Development of a personalized visualization and analysis tool to improve clinical care in complex multisystem diseases with application to scleroderma

open access: yesArthritis Care &Research, Accepted Article.
Background In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of a scleroderma patient's ...
Ji Soo Kim   +18 more
wiley   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

open access: yesAdvanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez   +8 more
wiley   +1 more source

Targeting RAGE with Nanobodies for Molecular Imaging of Cancers and Alzheimer's Disease

open access: yesAdvanced Biology, EarlyView.
RAGE‐specific nanobodies were isolated via phage display and characterized by ELISA, cell ELISA, and SPR. In vivo imaging in renal carcinoma and Alzheimer's disease mouse models demonstrated that NbF8, the highest‐affinity clone, selectively targeted RAGE‐overexpressing tumors and brain tissues, highlighting its potential as a molecular imaging agent ...
Guangfeng Liang   +13 more
wiley   +1 more source

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