Results 111 to 120 of about 4,403,070 (230)

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Prevalence and post-pandemic consequences of body dysmorphic disorder: a systematic review with meta-analysis

Body dysmorphic disorder (BDD) has had a growing impact in Western cultures, manifesting itself in social pressures to achieve physical standards, affecting both men and women.
Jovania Gallegos Bulnes, Jair Alier Collao Molina, Jonathan Martínez-Líbano, José Miguel Ahumada Reyes, Andrea Sarmiento Passalacqua   +4 more
core   +1 more source

Brief assessment of negative dysmorphic signs

, 2010
Patrizia Fiori1, Antonio Monaco1, Maria Giannetti Luigi21Central Operative Unit of Neurology, 2Infantile Neuropsychiatry and Social Service, ASL AV, Civil Hospital of Ariano Irpino, University of Naples, ItalyAbstract: Body dysmorphic disorder is a body ...
Antonio Monaco, null Fiori Patrizia, Maria Giannetti Luigi, Patrizia Fiori   +3 more
core   +1 more source

A Systematic Review of Ecological Momentary Assessment for Obsessive‐Compulsive Disorder

Journal of Clinical Psychology, Volume 82, Issue 11, Page 1744-1768, November 2026.
ABSTRACT Obsessive‐compulsive disorder (OCD) is characterized by its symptomatology heterogeneity, which poses challenges for its assessment and treatment. Ecological momentary assessment (EMA) has been proposed as a promising method for gathering information and may offer advantages over retrospective methods.
Irene Jaén, María Mostazo‐Arolo, Rosa Lorente‐Català   +2 more
wiley   +1 more source

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2161-2165, October 2026.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Do You Match What I Match? A Systematic Review of Over 20 Years of the Emotional Face Matching Task Reveals Vast Inconsistencies in Design and Implementation

Human Brain Mapping, Volume 47, Issue 14, October 1, 2026.
We systematically reviewed over 20 years of literature using the emotional face matching task (EFMT), revealing vast heterogeneity in task design, implementation, and reported neural activation. We introduce solutions to address the challenge of heterogeneity, including a standard version of the EFMT and the use of applicable statistical methods ...
Hannah S. Savage, Linda Schlüter, Roberta Russo, Imogen Leaning, Christian F. Beckmann, Andre F. Marquand   +5 more
wiley   +1 more source

A twin study of body dysmorphic concerns

, 2011
BackgroundDysmorphic concern refers to an excessive preoccupation with a perceived or slight defect in physical appearance. It lies on a continuum of severity from no or minimal concerns to severe concerns over one's appearance.
Cherkas, L., Mataix-Cols, D., F. Rijsdijk, Monzani, B., Iervolino, A. C., A. C. Iervolino, B. Monzani, L. Cherkas, D. Mataix-Cols, Anson, Martin, Spector, T., T. Spector, Rijsdijk, F., M. Anson   +13 more
core   +1 more source

Body, Emotions, and Hormones: A Systematic Review of Body Dissatisfaction, Emotion Regulation, and Puberty in Adolescence

Journal of Adolescence, Volume 98, Issue 7, Page 2207-2244, October 2026.
ABSTRACT Objective Body dissatisfaction often arises from a discrepancy between perceived and ideal body images, posing a risk for psychological issues like depression and eating pathologies, particularly during adolescence. Puberty's rapid physical changes may exacerbate the feeling of dissatisfaction, additionally pubertal changes also influence ...
Isabella Muscolino, Samantha Dockray, Maria Dempsey, Eleonora Tomei   +3 more
wiley   +1 more source