Results 231 to 240 of about 212,348 (390)

Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803

Clinical Genetics, EarlyView.
Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm, Dorota Studniarczyk, Xinyao Dou, Rebekka S. Dahl, Vincent Cruz, Heng Wang, Sandra Mercier, Wallid Deb, Thomas Besnard, Jennifer Friedman, Miriam Essid, Sana Karoui, Lamia Ben Jemaa, Thouraya Benyounes, Gaetan Lesca, Davide Tonduti, Maria Iascone, Simona Orcesi, Melanie Fradin, Christèle Dubourg, Silvia Napuri, Stuart G. Cull‐Candy, Ian D. Coombs, Mark Farrant, Allan Bayat   +24 more
wiley   +1 more source

Deep Brain Stimulation Reduces Conflict‐Related Theta and Error‐Related Negativity in Patients With Obsessive–Compulsive Disorder

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Obsessive–compulsive disorder (OCD) is a psychiatric disorder with alterations of cortico‐striato‐thalamo‐cortical loops and impaired performance monitoring. Electrophysiological markers such as conflict‐related medial frontal theta (MFT) and error‐related negativity (ERN) may be altered by clinically effective deep brain ...
Elena Sildatke, Theo O. J. Gruendler, Markus Ullsperger, Till A. Dembek, Juan Carlos Baldermann, Sina Kohl, Veerle Visser‐Vandewalle, Daniel Huys, Jens Kuhn, Thomas Schüller   +9 more
wiley   +1 more source

Metacognition and Its Relationship With Orbitofrontal Cortex and Thalamus Volumes in Patients With Obsessive-Compulsive Disorder. [PDF]

Brain Behav
Atmaca M, Yildiz S, Taskent I, Tabara MF, Gurkan Gurok M, Korkmaz S, Mermi O, Yildirim H.   +7 more
europepmc   +1 more source

S19.02 Psychotherapy and neuroimaging: Effect of cognitive and behavioural therapy on orbito-frontal-subcortical circuits in obsessive-compulsive disorder [PDF]

, 2000
Fritz Hohagen
openalex   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

Clinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot, Dima Jouni, Caroline Rooryck, Juliet Taylor, Marine Legendre, Lorelei Charbonnier, Julia Metreau, Emmanuelle Benaloun, Audrey Pinson, Geneviève Quenum, Jérôme Bouligand, Gérard Tachdjian, Philippe Labrune, Lucie Tosca   +13 more
wiley   +1 more source

Plasma exchange and intravenous immunoglobulin improved symptoms in a subtype of obsessive compulsive disorder and tic disorders [PDF]

, 2000
Paul Sandor
openalex   +1 more source

Management of Refractory Catatonia Associated With OCD Exacerbation in a Patient With Bipolar I Disorder: A Case Report

Bipolar Disorders, EarlyView.
Jiyun Lee, Rahat Hossain, Nikola Grujich, Ayal Schaffer   +3 more
wiley   +1 more source

Further Exploring the TRRAP Genotype–Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

Clinical Genetics, EarlyView.
We report on the clinical characteristics of three new patients with pathogenic TRRAP variants expanding the syndrome's phenotype. In order to investigate the TRRAP potential involvement in skeletal development, osteoclastogenesis in Patient 1 was evaluated and TRRAP expression in osteoclasts and osteoblasts were analyzed.
Chiara Minotti, Sara Terreri, Andrea Del Fattore, Francesca Romana Lepri, Rosario Ruta, Maria Iascone, Laura Pezzoli, Maria Lisa Dentici, Antonio Novelli, Michelina Armando, Daniela Longo, Giuseppe Novelli, Domenico Barbuti, Andrea Bartuli, Ugo Cavallari, Ludovico Graziani, Maria Cristina Digilio, Lorenzo Sinibaldi   +17 more
wiley   +1 more source

Cognitive Outcome After Deep Brain Stimulation for Refractory Obsessive–Compulsive Disorder: A Systematic Review

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Introduction Deep brain stimulation (DBS) is an effective treatment for refractory obsessive–compulsive disorder (OCD). Neuropsychological assessment contributes to DBS treatment in several ways: it monitors the cognitive safety of the treatment, identifies beneficial or detrimental cognitive side effects and it could aid to explain ...
Tim A. M. Bouwens van der Vlis, Annelien Duits, Mégan M. G. H. van de Veerdonk, Anne E. P. Mulders, Koen R. J. Schruers, Yasin Temel, Linda Ackermans, Albert F. G. Leentjens   +7 more
wiley   +1 more source

Artificial Intelligence in Obsessive-Compulsive Disorder: A Systematic Review. [PDF]

Curr Treat Options Psychiatry
Kim J, Pacheco JPG, Golden A, Aboujaoude E, van Roessel P, Gandhi A, Mukunda P, Avanesyan T, Xue H, Adeli E, Kim JP, Saggar M, Stirman SW, Kuhn E, Supekar K, Pohl KM, Rodriguez CI.   +16 more
europepmc   +1 more source