Results 231 to 240 of about 2,150,188 (381)
Deep learning-based automatic segmentation of cerebral infarcts on diffusion MRI. [PDF]
Sci RepRyu WS, Schellingerhout D, Park J, Chung J, Jeong SW, Gwak DS, Kim BJ, Kim JT, Hong KS, Lee KB, Park TH, Park SS, Park JM, Kang K, Cho YJ, Park HK, Lee BC, Yu KH, Oh MS, Lee SJ, Kim JG, Cha JK, Kim DH, Lee J, Park MS, Kim D, Bang OY, Kim EY, Sohn CH, Kim H, Bae HJ, Kim DE. +31 moreeuropepmc +1 more sourceThe Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
Annals of Neurology, EarlyView.Objective
A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci +79 morewiley +1 more sourceAdvantages of time-dependent diffusion MRI for quantitative microstructural mapping in breast tumors. [PDF]
Front OncolBao L, Li S, Wang Z, Sun Y, Qiu Y, Shen Z, Zhang X, Chen X, Zhang X, Zhang J, Ji T. +10 moreeuropepmc +1 more sourceHCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective
We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods
GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros +52 morewiley +1 more sourceDiffusion MRI: A New Strategy for Assessment of Cancer Therapeutic Efficacy
, 2002 Thomas L. Chenevert, Charles R. Meyer, Bradford A. Moffat, Alnawaz Rehemtulla, Suresh K. Mukherji, Stephen S. Gebarski, Douglas J. Quint, Patricia L. Robertson, Theodore S. Lawrence, Larry Junck, Jeremy M. G. Taylor, Timothy D. Johnson, Qian Dong, Karin M. Muraszko, James A. Brunberg, Brian D. Ross +15 moreopenalex +1 more source