Results 101 to 110 of about 10,519 (268)

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

open access: yesAdvanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu   +7 more
wiley   +1 more source

Neuromorphic Denoising with Fully Analog Memristive In‐Memory Computing

open access: yesAdvanced Intelligent Systems, EarlyView.
This article borrows the concepts of episodic memory in human brains to experimentally implement a memristor‐based neuromorphic denoising process. A homogeneous memristor processing unit is experimentally demonstrated for both temporal storage and neural network computation, imitating the synapses in the human brain.
Daijing Shi   +5 more
wiley   +1 more source

Clinical utility of eslicarbazepine: current evidence

open access: yesDrug Design, Development and Therapy, 2015
Gaetano Zaccara,1 Fabio Giovannelli,1,2 Massimo Cincotta,1 Alessia Carelli,3 Alberto Verrotti31Department of Medicine, Unit of Neurology, Florence Health Authority, Florence, Italy; 2Department of Neuroscience, Psychology, Pharmacology and Child ...
Zaccara G   +4 more
doaj  

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura   +2 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu   +23 more
wiley   +1 more source

Monotherapy for partial epilepsy: focus on levetiracetam

open access: yesNeuropsychiatric Disease and Treatment, 2008
Antonio Gambardella1,2, Angelo Labate1,2, Eleonora Colosimo1, Roberta Ambrosio1, Aldo Quattrone1,21Institute of Neurology, University Magna Græcia, Catanzaro, Italy; 2Institute of Neurological Sciences, National Research Council, Piano Lago di ...
Antonio Gambardella   +4 more
doaj  

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

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