Results 241 to 250 of about 57,606 (303)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, Volume 99, Issue 5, Page 1287-1302, May 2026.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

Annals of Neurology, Volume 99, Issue 5, Page 1263-1276, May 2026.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick, Rup K. Sainju, Roshni Nair, Deidre N. Dragon, Eduardo Bravo, Laura Vilella, Xiaojin Li, Samden D. Lhatoo, George B. Richerson, Brian K. Gehlbach   +9 more
wiley   +1 more source

Individualized Atrophy‐Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed‐Effects Modeling

Annals of Neurology, Volume 99, Issue 5, Page 1315-1326, May 2026.
Objective Age of symptom onset is highly variable in familial frontotemporal lobar degeneration (f‐FTLD). Accurate prediction of onset would inform clinical management and trial enrollment. Prior studies indicate that individualized maps of brain atrophy can predict conversion to dementia in f‐FTLD.
Shubir Dutt, Dana Leichter, Yann Cobigo, Amy Wolf, John Kornak, Annie Clark, Lucy L. Russell, Arabella Bouzigues, David M. Cash, Martina Bocchetta, Molly Olzinski, Brian Appleby, Ece Bayram, Barbara Borroni, Andrea Bozoki, Chris R. Butler, David Clark, Rhian S. Convery, R. Ryan Darby, Alexandre de Mendonça, Bradford Dickerson, Kimiko Domoto‐Reilly, Simon Ducharme, Eve Ferry‐Bolder, Elizabeth Finger, Phoebe H. Foster, Douglas R. Galasko, Daniela Galimberti, Alexander Gerhard, Nupur Ghoshal, Caroline Graff, Neill Graff‐Radford, Ian M. Grant, Chadwick M. Hales, Lawrence S. Honig, Ging‐Yuek Hsiung, Edward D. Huey, David Irwin, Lize C. Jiskoot, Walter Kremers, Justin Y. Kwan, Robert Laforce, Isabelle Le Ber, Gabriel C. Léger, Johannes Levin, Irene Litvan, Ian R. Mackenzie, Mario Masellis, Mario F. Mendez, Fermin Moreno, Chiadi Onyike, Markus Otto, Belen Pascual, Peter Pressman, Rosa Rademakers, Eliana Marisa Ramos, Aaron Ritter, Erik D. Roberson, James B. Rowe, Raquel Sanchez‐Valle, Isabel Santana, Harro Seelaar, Allison Snyder, Sandro Sorbi, Matthis Synofzik, Maria Carmela Tartaglia, Pietro Tiraboschi, John C. van Swieten, Marijne Vandebergh, Rik Vandenberghe, Hilary W. Heuer, Bruce L. Miller, William W. Seeley, Maria Luisa Gorno‐Tempini, Joel H. Kramer, Leah Forsberg, Kejal Kantarci, Bradley F. Boeve, Adam L. Boxer, Jonathan D. Rohrer, Howard J. Rosen, Adam M. Staffaroni, FTD Prevention Initiative (FPI) investigators   +82 more
wiley   +1 more source

Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism

Brain and Behavior, Volume 16, Issue 5, May 2026.
In this study, regions of the cortex highlighted in shades of blue indicate children with fragile X syndrome have increased cortical thickness compared to children with autism spectrum disorder. ABSTRACT Purpose An estimated 30%–50% of male individuals with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), indicating phenotypic
Jose M. Guerrero‐Gonzalez, Anna K. Lowe, Steven R. Kecskemeti, Brittany G. Travers, Andrew L. Alexander, Audra M. Sterling   +5 more
wiley   +1 more source

Functional Connectivity During Social Reward Processing in Autistic and Neurotypical Adolescents

Brain and Behavior, Volume 16, Issue 5, May 2026.
Heightened task‐evoked functional connectivity was observed in autistic youth between the amygdala and the posterior superior temporal sulcus (pSTS), core regions of the social reward circuitry, on receipt of a social‐interactive reward. The strength of connectivity was negatively correlated with enjoyment of social interaction.
Hua Xie, Dustin Moraczewski, Kathryn A. McNaughton, Katherine R. Warnell, Junaid S. Merchant, Laura A. Kirby, Elizabeth Redcay   +6 more
wiley   +1 more source

The Association Between Physical Activity and Domain‐Specific Cognitive Function in the Elderly: A Cross‐Sectional Study and Genetic Analysis

Brain and Behavior, Volume 16, Issue 5, May 2026.
Graphical abstract of the relationship between physical activity and cognitive function in older adults. Regular activity was associated with better cognitive performance, and vigorous‐intensity physical activity showed stronger genetic benefits across multiple cognitive domains.
Xingxiao Yin, Hao Peng, Yanqi Li, Yanping Song, Longjiang Chen, Na Yao, Pengcheng Li, Zhijuan He, Hongbo Chen, Li Huang, Zhen Shen, Qigang Chen   +11 more
wiley   +1 more source

Whole‐Brain Fractional Anisotropy, Centered on the Superior Longitudinal Fasciculus, Is Positively Correlated With Urban Aesthetic Perception

Brain and Behavior, Volume 16, Issue 5, May 2026.
This study examines the association between urban aesthetic perception and white matter microstructure in healthy adults. Diffusion tensor imaging reveals that both whole‐brain fractional anisotropy and superior longitudinal fasciculus integrity are positively related to subjective evaluations of urban aesthetic quality, suggesting that everyday ...
Keisuke Kokubun, Kiyotaka Nemoto, Maya Okamoto, Yoshinori Yamakawa   +3 more
wiley   +1 more source

Aberrant Brain Entropy in Alzheimer's Disease: Evidence From a Resting‐State fMRI Study

Brain and Behavior, Volume 16, Issue 5, May 2026.
ABSTRACT Background The neurodegenerative disorder, Alzheimer's disease (AD), is typified by insidious onset and increasing prevalence with advancing age. It primarily causes comprehensive functional decline in memory, language, and executive control.
Xuke Zhang, Meihai Wen, Simin Zhang, Chen Rao, Tong Gu, Zhiwen Zha, Chen He, Yuanyuan Song, Shuang Niu, Lei Zhu, Chuanqing Yu   +10 more
wiley   +1 more source

White Matter Tract Alterations in Bipolar Disorder: A Systematic Review and Meta‐Analysis of Diffusion Tensor Imaging Studies

Brain and Behavior, Volume 16, Issue 5, May 2026.
This systematic review and meta‐analysis synthesizes diffusion tensor imaging evidence of white matter microstructural abnormalities in bipolar disorder. Across published studies, patients with bipolar disorder showed reduced fractional anisotropy in several major white matter tracts, including the corpus callosum, cingulum bundle, corona radiata ...
Behnaz Mahmoudvand, Mohammad Saeed Soleimani Meigoli, Alisa Mohebbi, Negarsadat Namazi, Mina Jafari, Mohammad Sadra Saghafi, Milad Yousefi, Mahsa Asadi Anar, Amirhossein Rigi, Seyed Amirali Zakavi, Mohammad Javad Khosravi, Farbod Khosravi, Zahra Rahimian, Hadi Mahdavian, Hanna Torkzadeh, Melika Arab Bafrani, Shaghayegh Karami, Shadi Hajizamani, Mohaddeseh Sadat Hosseini   +18 more
wiley   +1 more source

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Frontal lobe epilepsy

Epileptic Disorders, 2004
Frontal lobe epilepsy accounts for only 10‐20% of the patients in surgical series, but the incidence in non‐surgical patient cohorts seems to be much higher. The typical clinical presentation of the seizures includes contralateral clonic movements, uni‐ or bilateral tonic motor activity as well as complex automatism.
Christoph, Kellinghaus, Hans O, Lüders
openaire   +2 more sources