Results 171 to 180 of about 631,065 (281)

An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Visible‐Light‐Driven Aqueous Polymerization Enables in Situ Formation of Biocompatible, High‐Performance Organic Mixed Conductors for Bioelectronics

open access: yesAngewandte Chemie, EarlyView.
Visible‐light‐driven, initiator‐free aqueous photopolymerization of a PEDOT (poly(3,4‐ethylenedioxythiophene)) analogue precursor yields biocompatible, state‐of‐the‐art organic mixed ionic–electronic conductor, enabling direct fabrication of high‐performance bioelectronic devices without the use of harmful oxidants. Abstract Polymer‐based organic mixed
Tobias Abrahamsson   +20 more
wiley   +2 more sources

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

SA-PN-TEC: Pink noise sounds and EEG files

open access: green, 2020
Norberto E. Naal-Ruiz   +2 more
openalex   +1 more source

Intracranial EEG Seizure-Onset Patterns [PDF]

open access: hybrid, 2014
J Gordon Millichap, J Gordon Millichap
openalex   +1 more source

Behavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy

open access: yesAnnals of Neurology, EarlyView.
Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen   +8 more
wiley   +1 more source

A low-latency neural inference framework for real-time handwriting recognition from EEG signals on an edge device. [PDF]

open access: yesSci Rep
Sen O   +8 more
europepmc   +1 more source

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