Results 191 to 200 of about 475,380 (299)

LYCEUM: learning to call copy number variants on low-coverage ancient genomes. [PDF]

Bioinformatics
Yılmaz MA, Ceylan AA, Kaynar G, Çiçek AE.   +3 more
europepmc   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

JAMA psychiatry, 2018
G. Huguet, C. Schramm, E. Douard, Lai Jiang, A. Labbe, F. Tihy, Géraldine Mathonnet, S. Nizard, E. Lemyre, A. Mathieu, J. Poline, E. Loth, R. Toro, G. Schumann, P. Conrod, Z. Pausova, C. Greenwood, T. Paus, T. Bourgeron, S. Jacquemont   +19 more
semanticscholar   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Application and clinical utility assessment of natural language processing-based software for copy-number variants interpretation. [PDF]

J Transl Med
Chen S, Liu C, Luan X, Wang Y, Xu Y, Li Y, Zhang F, Shi W, Zhou X, Xu C.   +9 more
europepmc   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 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

Copy number variants in absence epilepsy

, 2016
info:eu-repo/semantics ...
openaire   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu, Yinjiao Fei, Jiaxuan Ding, Kexin Shi, Jinyan Luo, Yuchen Zhu, Xingjian Sun, Gefei Jiang, Yuandong Cao, Weilin Xu, Shu Zhou   +10 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