Results 191 to 200 of about 188,720 (256)

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Copy number variants and the tangential expansion of the cerebral cortex. [PDF]

Nat Commun
Liao Z, Kumar K, Kopal J, Huguet G, Saci Z, Jean-Louis M, Pausova Z, Jurisica I, Bearden CE, IMAGEN Consortium, 16p11.2 European Consortium, Jacquemont S, Paus T.   +12 more
europepmc   +1 more source

Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò   +8 more
wiley   +1 more source

Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology. [PDF]

Biol Psychiatry Cogn Neurosci Neuroimaging
Silva AI, Sønderby IE, Kirov G, Abdellaoui A, Agartz I, Ames D, Armstrong NJ, Artiges E, Banaschewski T, Bassett AS, Bearden CE, Blangero J, Boen R, Boomsma DI, Bülow R, Butcher NJ, Calhoun V, Campbell LE, Chow EWC, Ciufolini S, Craig MC, Crespo-Farroco B, Cunningham AC, Dalvie S, Daly E, Dazzan P, de Geus EJC, de Zubicaray GI, Doherty JL, Donohoe G, Drakesmith M, Espeseth T, Frouin V, Garavan H, Glahn DC, Goodrich-Hunsaker NJ, Gowland PA, Grabe HJ, Grigis A, Gudbrandsen M, Gutman BA, Haavik J, Håberg AK, Hall J, Heinz A, Hohmann S, Hottenga JJ, Jacquemont S, Jahanshad N, Jonas RK, Jones DK, Jönsson EG, Koops S, Kumar K, Le Hellard S, Lemaitre H, Liu J, Lundervold AJ, Martinot JL, Mather KA, McDonald-McGinn DM, McMahon KL, McRae AF, Medland SE, Moreau CA, Murphy KC, Murphy D, Murray RM, Nees F, Owen MJ, Paillère Martinot ML, Orfanos DP, Paus T, Poustka L, Marques TR, Roalf DR, Sachdev PS, Scheffler F, Schmitt JE, Schumann G, Steen VM, Stein DJ, Strike LT, Teumer A, Thalamuthu A, Thomopoulos SI, Tordesillas-Gutiérrez D, Trollor JN, Uhlmann A, Vajdi A, van 't Ent D, van Amelsvoort T, van den Bree MBM, van der Meer D, Vázquez-Bourgon J, Villalón-Reina JE, Völker U, Völzke H, Vorstman JAS, Westlye LT, Williams N, Wittfeld K, Wright MJ, Thompson PM, Andreassen OA, Linden DEJ, ENIGMA-CNV Working Group.   +106 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The importance of intrafamilial cognitive phenotyping by the case of 22q11.2 deletion, 15q11.2 deletion, and families with inherited copy number variants of unknown significance. [PDF]

J Neurodev Disord
Pelgrims E, Hannes L, Noens I, Peeters Y, Peeters H, Fiksinski AM, Heung T, Bassett AS, Breckpot J, Swillen A.   +9 more
europepmc   +1 more source

Risk of Non‐Arteritic Anterior Ischemic Optic Neuropathy in Idiopathic Intracranial Hypertension Patients Treated with GLP‐1 Receptor Agonists

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Glucagon‐like peptide‐1 receptor agonists (GLP‐1 RAs) have demonstrated significant weight‐reducing effects and may offer benefits in idiopathic intracranial hypertension (IIH); however, recent concerns about the risk of non‐arteritic anterior ischemic optic neuropathy (NAION) have emerged.
Faisal A. Al‐Harbi, Mohanad A. Alkuwaiti, Yazeed B. Alaql, Ahmed K. Alsaif, Ahmed A. Alessa, Meshari Ayed Alharbi, Mohammed Alfalah, Saud A. Alnaaim, Sajjad M. AlHaddad, Ahmed Y. Azzam   +9 more
wiley   +1 more source

CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants. [PDF]

BMC Bioinformatics
Krause J, Classen C, Dey D, Lausberg E, Kessler L, Eggermann T, Kurth I, Begemann M, Kraft F.   +8 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium. [PDF]

Front Genet
Soster E, Dalton K, Bonifacio M, Ellis KB, Hardy T, Heddar A, Jurkowska M, Kleinfinger P, Kulisic M, Loggenberg K, Menezes M, Mori A, Savarese G, Westover T, Bhatt S.   +14 more
europepmc   +1 more source