Results 221 to 230 of about 300,100 (258)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

The effects of obesogenic diet on a <i>Drosophila</i> model of frontotemporal dementia. [PDF]

MicroPubl Biol
Ake C, Cervantes E, Garcia C, Hammons H, Obawole L, Morton I, Pham L, Salas B, Stacks S, Villarreal L, York F, Biglari S, Yeragi E, Lillvis E, Moulton M, Keene A.   +15 more
europepmc   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil, Hannan A Qureshi, Logan Lindemann, David J. Cvancara, Ashton E. Lehmann, Aria Jafari   +5 more
wiley   +1 more source

Genetic factors complicating recovery in patients with brain injury: Possible link between injury severity and posttraumatic neurodegeneration related to intracerebral amyloid deposition - A narrative review. [PDF]

Surg Neurol Int
Splavski B, Zupan M, Velnar T, Frol S.
europepmc   +1 more source

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes, Lukas Henning, Karen M. J. van Loo, Rainer Surges, Susanne Schoch, Albert J. Becker, Julika Pitsch   +6 more
wiley   +1 more source

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

Correction to: Medial temporal ageing-related tau astrogliopathy below 66 years is associated with neurodegeneration. [PDF]

Brain
europepmc   +1 more source

Caveolin-1 at the Crossroads of Diabetes and Alzheimer's Disease: New Mechanisms, Biomarkers, and Therapeutic Opportunities. [PDF]

Biomedicines
Surguchov A.
europepmc   +1 more source

From cryptic exons to neuronal dysfunction: combinatorial antisense makes sense in TAR DNA-binding protein-43 (TDP-43) pathology. [PDF]

Signal Transduct Target Ther
Figlia G, Bremer J.
europepmc   +1 more source

Correction: Plasma proteomic signatures of early retinal neurodegeneration in diabetes: a multi-cohort study. [PDF]

PLoS Med
PLOS Medicine Staff.
europepmc   +1 more source