Results 161 to 170 of about 2,601,816 (350)

Memory and Plasma pTau217 Refine Prognosis in Down Syndrome

Annals of Neurology, EarlyView.
Individuals with Down syndrome (DS) are at high risk for Alzheimer's disease (AD), yet accessible tools for routine clinical screening of AD in individuals with DS remain limited. Using data from the Alzheimer Biomarker Consortium‐Down Syndrome (ABC‐DS), we show that integrating plasma pTau217 with performance on the modified cued recall task ...
Casey R. Vanderlip, Sigan L. Hartley, Sharon Krinsky‐McHale, Christy Hom, Adam M. Brickman, Melissa E. Petersen, Elizabeth Head, Craig E.L. Stark, for the Alzheimer's Biomarker Consortium—Down Syndrome (ABC‐DS) Study Team, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus M. Birn, Adam M. Brickman, Peter Bulova, Jeff Burns, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Ann D. Cohen, Eric W. Doran, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Elizabeth Head, Denise Head, Christy Hom, Lawrence Honig, Milos D. Ikonomovic, Sterling C Johnson, M. Ilyas Kamboh, David Keator, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky‐McHale, Florence Lai, Patrick Lao, Charles Laymon, Joseph Hyungwoo Lee, Ira T. Lott, Victoria Lupson, Mark Mapstone, Davneet Singh Minhas, Neelesh Nadkarni, Sid O'Bryant, Deborah Pang, Melissa Petersen, Julie C. Price, Lauren Ptomey, Margaret Pulsifer, Michael S. Rafii, Herminia Diana Rosas, Frederick Schmitt, Nicole Schupf, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Badri Varadarajan, Michael A. Yassa, Shahid Zaman, Fan Zhang   +62 more
wiley   +1 more source

Craniodigital-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly. [PDF]

Genome Med, 2021
Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D.   +16 more
europepmc   +1 more source

Case Report: Diabetes Mellitus as a Novel Endocrine Manifestation of Alpha Thalassemia X-Linked Intellectual Disability (ATR-X) Syndrome [PDF]

Carmen Nahir Plaza Mejias, Griselda Alvarez, Andrew Kanouse   +2 more
openalex   +1 more source

Hyperphosphatasia-intellectual disability syndrome [PDF]

, 2020
openaire   +1 more source

Expert Perspectives: Toward Treat‐to‐Target Management in Adult Idiopathic Inflammatory Myopathies

Arthritis &Rheumatology, EarlyView.
Treat‐to‐target has transformed the management of several rheumatic diseases through predefined therapeutic goals, structured disease assessment, and timely treatment adjustment. Despite major advances in the understanding and treatment of idiopathic inflammatory myopathies (IIM), a formal treat‐to‐target framework for adult IIM has not yet been ...
Shiri Keret, Nantakarn Pongtarakulpanit, Rohit Aggarwal   +2 more
wiley   +1 more source

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly [PDF]

Nathalie Vanden Eynde, Lucas Hérissant, Emilie Landais, Matthieu Egloff, Marlène Rio, Geneviève Baujat, Fabienne Giuliano, Houda Karmous‐Benailly, Charles Coutton, Véronique Satre, Gaëlle Vieville, Paul Kuentz, Mathilde Nizon, Claire Bénéteau, Bertrand Isidor, Patrick Callier, Valentine Marquet, Éric Bieth, Jonathan Lévy, Anne‐Claude Tabet, François Cartault, Sophie Scheidecker, Aurélie Gouronc, Audrey Schalk, Chloé Angelini, Perrine Pennamen, Caroline Rooryck, Slavica Trajkova, Biljana Gagachovska, Brynn Shrom‐Model, Stephen R. Braddock, Paul Hillman, Lingying Liu, Christina Fenger, Trine Bjørg Hammer, Ina Schanze, Martin Zenker, Martine Doco‐Fenzy, Céline Poirsier, Guillaume Jouret   +39 more
openalex   +1 more source

Electroconvulsive Therapy for Catatonia in Autistic and Non‐Autistic Patients: An Observational Study on Course, Efficacy, Aggression, and Self‐Injury Outcomes

Autism Research, EarlyView.
ABSTRACT Catatonia occurs disproportionately in autistic individuals and may respond to electroconvulsive therapy (ECT), yet prior reports suggest greater treatment burden in this population. We compared longitudinal ECT utilization, safety, and clinical outcomes between autistic and non‐autistic patients with catatonia.
Joshua Ryan Smith, Maria Bonnee, Sarah Marler, Seri Lim, D. Catherine Fuchs, Rafael Tamargo, Isaac Baldwin, Christopher Maley, Ashley VanHaverbeck, Courtney Hamilton, Timothy Adegoke, Haozheng Xu, Jinyuan Liu, Zachary J. Williams, Jo Ellen Wilson, James Luccarelli   +15 more
wiley   +1 more source

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source