Results 81 to 90 of about 180,531 (324)

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Brainatwork: Logging Cognitive Engagement and Tasks in the Workplace Using Electroencephalography [PDF]

, 2017
Today's workplaces are dynamic and complex. Digital data sources such as email and video conferencing aim to support workers but also add to their burden of multitasking.
Alt, Florian, Friedl, Susanne, Hassib, Mariam, Khamis, Mohamed, Schneegass, Stefan   +4 more
core   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

An Accurate Sleep Stages Classification Method Based on State Space Model

IEEE Access, 2019
The classification of sleep stages is the process which helps to evaluate the quality of sleep and detect the sleep related disorders. Through analyzing the electroencephalography, the sleep stages can be discriminated manually by specialists.
Huaming Shen, Meihua Xu, Allon Guez, Ang Li, Feng Ran   +4 more
doaj   +1 more source

Analysis of the EEG Rhythms Based on the Empirical Mode Decomposition During Motor Imagery When Using a Lower-Limb Exoskeleton. A Case Study

Frontiers in Neurorobotics, 2020
The use of brain-machine interfaces in combination with robotic exoskeletons is usually based on the analysis of the changes in power that some brain rhythms experience during a motion event.
Mario Ortiz, Mario Ortiz, Eduardo Iáñez, José L. Contreras-Vidal, José M. Azorín   +4 more
doaj   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Identification of Veterans With PTSD Based on EEG Features Collected During Sleep

Frontiers in Psychiatry, 2020
Background: Previously, we identified sleep-electroencephalography (EEG) spectral power and synchrony features that differed significantly at a population-average level between subjects with and without posttraumatic stress disorder (PTSD).
Srinivas Laxminarayan, Srinivas Laxminarayan, Chao Wang, Chao Wang, Tatsuya Oyama, Tatsuya Oyama, J. David Cashmere, Anne Germain, Jaques Reifman   +8 more
doaj   +1 more source

Diffusion geometry approach to efficiently remove electrical stimulation artifacts in intracranial electroencephalography [PDF]

, 2018
Cortical oscillations, electrophysiological activity patterns, associated with cognitive functions and impaired in many psychiatric disorders can be observed in intracranial electroencephalography (iEEG).
Alagapan, Sankaraleengam, Frohlich, Flavio, Shin, Hae Won, Wu, Hau-tieng   +3 more
core   +3 more sources

AI in Neurology: Everything, Everywhere, All at Once Part 1: Principles and Practice

Annals of Neurology, EarlyView.
Artificial intelligence (AI) is rapidly transforming healthcare, yet it often remains opaque to clinicians, scientists, and patients alike. This review, part 1 of a 3‐part series, provides neurologists and neuroscientists with a foundational understanding of AI's key concepts, terminology, and applications.
Matthew Rizzo, Jeffrey D. Dawson
wiley   +1 more source

Gender issues in the neurobiology of epilepsy: A clinical perspective

Neurobiology of Disease, 2014
A patient's hormonal milieu contributes to the timing of emergence of several epilepsy syndromes that are known to begin at puberty and recede with the end of reproductive potential.One's hormonal balance at any particular moment contributes to seizure ...
Barbara S. Koppel, Cynthia L. Harden
doaj