Results 161 to 170 of about 88,373 (350)

Enhanced Sensitivity of a Modified Quaking‐Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study

Annals of Neurology, EarlyView.
Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw, Rebecca Fox, Dominic M.S. Kielich, Lise Lamoureux, Melanie Leonhardt, Olivia Nykvist, Jessy A. Slota, Kristen Avery, Clark Phillipson, Kathy Frost, Sharon Simon, Brian S. Appleby, Ben A. Bailey‐Elkin, Stephanie A. Booth   +13 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, EarlyView.
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

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a de novo variant: a case report and literature review [PDF]

Guoqin Zhu, Yao Yao, Lingyun Yang, Ying Hua, Guo‐Min Li   +4 more
openalex   +1 more source

[Neonatal epileptics syndromes].

Medicina
Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal seizures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and ...
openaire   +1 more source

Molecular stratification of antiphospholipid syndrome through integrative analysis of the whole‐blood RNA transcriptome

Arthritis &Rheumatology, Accepted Article.
Objective Antiphospholipid syndrome (APS) is a thrombo‐inflammatory disorder characterized by clinical and mechanistic heterogeneity that complicates early diagnosis and hinders targeted treatment. We aimed to identify distinct molecular endotypes among antiphospholipid antibody (aPL)‐positive patients using whole‐blood transcriptomics.
Amala Ambati, Feiyang Ma, Katarina Kmetova, Sherwin Navaz, Claire K. Hoy, Cyrus Sarosh, Ajay Tambralli, Erika Navarro‐Mendoza, Johann E. Gudjonsson, J. Michelle Kahlenberg, Jacqueline A. Madison, Alí Duarte‐García, Jason S. Knight, Yu Zuo   +13 more
wiley   +1 more source

Neuroleptic Malignant Syndrome‐like State in an Epileptic Patient with Organic Brain Comorbidity Treated with Zonisamide and Carbamazepine [PDF]

, 2007
Hideki Azuma, Atsushi Negi, Manabu Hattori, Masayasu Tsuji, Tatsuto Akechi, Toshi A. Furukawa   +5 more
openalex   +1 more source

Parental Stress and Caregiver Role Modulate Child–Caregiver Prosodic Synchrony in Autism: A Computational Analysis

Autism Research, EarlyView.
ABSTRACT Parental stress influences parent–child interactions in typical development and is a prognostic factor of autism outcome. However, we still do not know to what extent parental stress affects parent–child interactions and whether caregiver role matters.
Maria Grazia Logrieco, Giulio Bertamini, Laura Casula, Mohamed Chetouani, Silvia Guerrera, Mirco Fasolo, Paola Venuti, Maria Luisa Scattoni, Francesca Fulceri, Stefano Vicari, David Cohen, Giovanni Valeri   +11 more
wiley   +1 more source

Exploring the landscape of developmental and epileptic encephalopathies and gene research global dynamics via bibliometric study 2001-2025. [PDF]

Front Neurol
Liu WH, Zhang SQ, Ding Y, Zhao Y, Meng H.   +4 more
europepmc   +1 more source

An open‐label, single‐arm, dose‐escalating concentration–QT study to investigate the cardiac effects and safety of paroxetine in healthy adults

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Paroxetine is a selective serotonin reuptake inhibitor (SSRI), approved for treatment of major depressive disorder and anxiety disorders. Some SSRIs are known to prolong the QT interval; however, clinical evidence to establish a lack of association between paroxetine and corrected QT interval (QTc) prolongation is limited. Therefore, this
Sven C. van Dijkman, Mathieu Félices, Bhaskar Pandurangavittal, Sanman Ghorpade, Caroline Easterbrook, Marcin Zabielski, Oscar Della Pasqua   +6 more
wiley   +1 more source

Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy. [PDF]

Medicine (Baltimore)
Qi L, Fang C, Hu Z.
europepmc   +1 more source