Results 151 to 160 of about 22,166 (247)
When Does Alzheimer's Disease Start? Plasma Aβ42/40 Assays Show Steep Changes at Aβ‐PET Centiloid 15, Mean Age of 66 Years
Annals of Neurology, EarlyView.Objective
Sporadic late‐onset Alzheimer's disease (AD) is characterized by a long pre‐clinical phase where amyloid‐beta (Aβ) and tau begin to accumulate in the brain. The primary objective was to determine the age at which AD starts by finding the average population age when both positron emission tomography (PET) Aβ (Aβ‐PET) and plasma Aβ42/40 become ...Rodrigo Cánovas, Timothy Cox, Vincent Doré, Pierrick Bourgeat, Jurgen Fripp, Azadeh Feizpour, Rosita Shishegar, Christopher J. Fowler, Simon M. Laws, Tenielle Porter, Stephanie Rainey‐Smith, Leslie M. Shaw, Randall J. Bateman, Yan Li, Ovod Vitaliy, Michael W. Weiner, John C. Morris, Tammie L.S. Benzinger, Suzanne E. Schindler, Akinori Nakamura, Takeshi Iwatsubo, Takeshi Ikeuchi, Takashi Kato, Paul Maruff, Hamid R. Sohrabi, Christopher C. Rowe, Ralph N. Martins, Colin L. Masters, James D. Doecke, for the Alzheimer's Disease Neuroimaging Initiative +29 morewiley +1 more sourceIndividualized 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 morewiley +1 more sourceDiverse Genetic Etiologies of Unilateral Polymicrogyria
Annals of Neurology, EarlyView.Objective
Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang +21 morewiley +1 more sourceThe Evolution of Molecular Phenotypes Through Time in Kidney Transplant Recipients. [PDF]
Transplant DirectBaragar B, Adam BA, Mengel M, Balshaw R, Gibson IW, Ho J, Shaw J, Karpinski M, Trachtenberg A, Pochinco D, Goldberg A, Birk P, Pinsk M, Rush D, Nickerson PW, Wiebe C. +15 moreeuropepmc +1 more sourceFibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, EarlyView.Objective
Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods
We Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech +42 morewiley +1 more sourceAlternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target
Annals of Neurology, EarlyView.Objective
Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic +14 morewiley +1 more source
