Results 41 to 50 of about 3,566,136 (84)

Hippocampal Seizure‐Related Burden is Associated with Accelerated Long‐Term Forgetting in Focal Epilepsy

Annals of Neurology, EarlyView.
Objective Memory impairment is a frequent comorbidity of focal epilepsy, incompletely explained by seizure frequency or structural pathology. Ictal and postictal hippocampal dysfunction disrupt memory processes, but their cumulative impact remains poorly quantified.
Ionuț‐Flavius Bratu, Isabelle Lambert, Olivier Felician, Samuel Medina Villalon, Agnès Trébuchon, Fabrice Bartolomei   +5 more
wiley   +1 more source

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han, Yuke Wang, Yixiong Dang, Rong Xiang, Yan Zeng, Sheng He, Ye Ju, Zilan Chen, Ting Liu, Zihao Li, Yuqi Pang, Wanyi Tan, Jue Xu, Jingwen Jiang, Xia Jiang   +14 more
wiley   +1 more source

Itämerensuomalaisten kielten keskinäistä ymmärrettävyyttä mittaavan kokeen suunnittelu, toteutus ja uutuusarvot

Lähivõrdlusi
Itämerensuomalaisten kielten keskinäisen ymmärrettävyyden tutkimus on osoittanut, että kielten äidinkieliset puhujat luottavat itämerensuomalaisten kielten samankaltaisuuteen pyrkiessään ymmärtämään sukukieltä.
Aleksi Palokangas
doaj   +1 more source

Influence of Vitamin B12 Deficiency on Auditory and Vestibular Functioning: An Objective Test‐Based Systematic Review

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate the effectiveness of objective audiological and vestibular assessments in detecting functional changes associated with vitamin B12 deficiency. Data Sources A comprehensive literature search was conducted in PubMed, Scopus, Web of Science, and EMBASE databases.
Nesmah Zainab, Santhosh Periyasamy, Kishan Madikeri Mohan   +2 more
wiley   +1 more source

Autism spectrum disorder assessment in cerebral palsy and other early‐onset motor conditions: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To map diagnostic procedures and standardized instruments reportedly used to identify autism spectrum disorder (ASD) in people with cerebral palsy or other early‐onset motor conditions (EOMC) including Rett syndrome and muscular dystrophy.
Olga Laporta‐Hoyos, Marina Fernández‐Andújar, Lee Reid, Marta Oporto‐Alonso, Júlia Ballester‐Plané, América Carrascal‐Zuluaga, María Gutiérrez‐del Hoyo, Jacqui Ferraiolo, Magnus Påhlman, Kate Himmelmann, Somer Bishop, Roser Pueyo   +11 more
wiley   +1 more source

A Near-Death Experience Narrated by a Vepsian Woman [PDF]

This article focuses on the immediate near-death experience of an elderly woman living in traditional Vepsian culture. We analyse which universal, and which more culturally motivated features are present in her story narrated to us in 2018.
Arukask, Madis, Saar, Eva
core   +1 more source

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Hemophilia A, an X‐linked bleeding disorder caused by pathogenic variants in the F8 gene, requires precise genetic diagnosis for optimal management. Conventional stepwise sequence and copy number variation (CNV) analyses are time‐consuming and may leave some cases unresolved.
Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadas, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Gunes, Funda Tayfun Kupesiz, Alphan Kupesiz, Fahri Sahin, Tahir Atik   +13 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 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

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
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, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

A prospective natural history study protocol for clinical trial readiness in synaptic disorders

Epilepsia, Volume 67, Issue 10, Page 5448-5463, October 2026.
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee, Sarah M. Ruggiero, Kristin Cunningham, JoeyLynn Coyne, Ian McSalley, Michael C. Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M. Orlando, Viveknarayanan Padmanabhan, Alexander K. Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A. Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie McCarthy, Jan H. Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao‐Tuan Chao, Katherine Xiong, Elizabeth Berry‐Kravis, Sepideh Tabarestani, J. Michael Graglia, Kathryn Helde, Virginie McNamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J. Boland, Samuel R. Pierce, Ingo Helbig   +38 more
wiley   +1 more source