Results 161 to 170 of about 1,027,501 (383)
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern +5 morewiley +1 more sourceChronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino +8 morewiley +1 more sourceFoxo Transcription Factors Induce the Atrophy-Related Ubiquitin Ligase Atrogin-1 and Cause Skeletal Muscle Atrophy
Cell, 2004 M. Sandri, C. Sandri, A. Gilbert, Carsten Skurk, E. Calabria, A. Picard, K. Walsh, S. Schiaffino, S. Lecker, A. Goldberg +9 moresemanticscholar +1 more sourcePost‐COVID Fatigue Is Associated With Reduced Cortical Thickness After Hospitalization
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Neuropsychiatric symptoms are among the most prevalent sequelae of COVID‐19, particularly among hospitalized patients. Recent research has identified volumetric brain changes associated with COVID‐19. However, it currently remains poorly understood how brain changes relate to post‐COVID fatigue and cognitive deficits.Tim J. Hartung, Florentin Steigerwald, Amy Romanello, Cathrin Kodde, Matthias Endres, Sandra Frank, Peter Heuschmann, Philipp Koehler, Stephan Krohn, Daniel Pape, Jens Schaller, Sophia Stöcklein, Istvan Vadasz, Janne Vehreschild, Martin Witzenrath, Thomas Zoller, Carsten Finke, on behalf of the NAPKON Study Group, Y. Ahlgrimm, C. Finke, J. Fricke, T. Keil, L. Krist, N. Lisewsky, M. Mittermaier, M. Mueller‐Plathe, C. Pley, S. Schmidt, A. Stege, F. Steinbeis, S. Steinbrecher, C. Wildberg, M. Witzenrath, E. Zessin, T. Zoller, C. Arendt, C. Bellinghausen, S. Cremer, A. Groh, A. Gruenewaldt, Y. Khodamoradi, S. Klinsing, G. Rohde, M. Vehreschild, T. Vogl, S. Frank, J. C. Hellmuth, M. Huber, S. Kaeaeb, O. T. Keppler, E. Khatamzas, C. Mandel, S. Mueller, M. Muenchhoff, L. Reeh, C. Scherer, H. Stubbe, M. von Bergwelt, L. Weiss, B. Zwissler, S. Cleef, M. E. Figuera Basso, J. Franzenburg, K. Franzpoetter, A. Friedrichs, A. Hermes, J. Heyckendorf, C. Kujat, I. Lehmann, C. Maetzler, S. Meier, D. Pape, S. Poick, L. Reinke, A. K. Russ, A. M. Scheer, D. Schunk, T. Tamminga, S. Bohnet, D. Droemann, K. F. Franzen, R. Hoerster, N. Kaeding, M. Nissen, P. Parschke, J. Rupp, S. Caesar, H. Einsele, S. Frantz, A. Frey, A. Grau, K. Haas, C. Haertel, K. G. Haeusler, G. Hein, J. Herrmann, A. Horn, R. Jahns, P. Meybohm, F. A. Montellano, C. Morbach, J. Schmidt, P. Schulze, S. Stoerk, J. Volkmann, T. Bahmer, A. Hermes, M. Krawczak, W. Lieb, S. Schreiber, T. Tamminga, B. Balzuweit, S. Berger, J. Fricke, M. Hummel, A. Krannich, L. Krist, F. Kurth, J. Lienau, R. Lorbeer, C. Pley, J. Schaller, S. Schmidt, C. Thibeault, M. Witzenrath, T. Zoller, I. Bernemann, T. Illig, M. Kersting, N. Klopp, V. Kopfnagel, S. Muecke, M. Kraus, B. Lorenz‐Depiereux, G. Anton, A. Kuehn‐Steven, S. Kunze, M. K. Tauchert, K. Appel, M. Brechtel, I. Broehl, K. Fiedler, R. Geisler, S. M. Hopff, K. Knaub, C. Lee, S. Nunes de Miranda, S. Raquib, G. Sauer, M. Scherer, J. J. Vehreschild, P. Wagner, L. Wolf, J. C. Hellmuth, K. Guenther, F. Haug, J. Haug, A. Horn, M. Kohls, C. Fiessler, P. U. Heuschmann, O. Miljukov, C. Nuernberger, J. P. Reese, L. Schmidbauer, I. Chaplinskaya, S. Hanss, D. Krefting, C. Pape, M. Rainers, A. Schoneberg, N. Weinert, T. Bahls, W. Hoffmann, M. Nauck, C. Schaefer, M. Schattschneider, D. Stahl, H. Valentin, P. Heuschmann, A. L. Hofmann, S. Jiru‐Hillmann, J. P. Reese, S. Herold, P. Heuschmann, R. Heyder, W. Hoffmann, T. Illig, S. Schreiber, J. J. Vehreschild, M. Witzenrath +190 morewiley +1 more sourceNusinersen versus Sham Control in Infantile‐Onset Spinal Muscular Atrophy
New England Journal of Medicine, 2017 R. Finkel, E. Mercuri, B. Darras, A. Connolly, N. Kuntz, J. Kirschner, C. Chiriboga, Kayoko Saito, L. Servais, E. Tizzano, H. Topaloğlu, M. Tulinius, J. Montes, A. Glanzman, K. Bishop, Z. Zhong, S. Gheuens, C. Bennett, E. Schneider, W. Farwell, D. Vivo, W. Bradley, M. Schroth, J. B. Bodensteriner, C. Davis, R. Shell, J. Hen, E. D. Austin, S. Aziz-Zaman, J. Cappell, A. Constantinescu, R. Cruz, J. Dastgir, S. Dunaway, K. Engelstad, M. Gormley, N. L. Marca, A. Khandji, S. Kramer, J. Marra, C. Ortiz-Miller, M. Popolizio, R. Salazar, L. Sanabria, L. Weimer, P. Anand, R. Gadeken, P. Golumbek, C. Siener, C. Zaidman, F. Al-Ghamdi, C. Berde, Partha S Ghosh, R. Graham, Tim Harrington, A. Koka, R. Laine, W. Liew, Elizabeth Mirek, G. Ordoñez, A. Pasternak, J. Quigley, N. Sethna, M. Souris, Heather Szelag, L. Wand, J. Day, G. D'souza, T. Duong, R. Gee, J. Kitsuwa-Lowe, D. McFall, S. Patnaik, S. Paulose, Jennifer Pérez, Christopher Proud, B. Purse, R. J. Ramamurthi, S. Sakamuri, J. Sampson, B. Sanjanwala, A. Rocha, K. Watson, L. Welsh, L. Pena, L. Case, J. Coates, Stephanie M. Dearmey, M. Homi, C. Milleson, N. Nelson, A. Ross, E. Smith, B. Taicher, J. Wootton, E. Finanger, D. Benjamin, A. Frank, C. Roberts, B. Russman, K. Zilke, D. Berry, M. Civitello, D. Cook, J. D. Endsley, C. Johnson, M. Kasper, W. Leon, A. Lim, K. O’Reardon, L. Sigurdardottir, J. Turner, F. Weber-Guzman, M. Zinn, S. Iannaccone, D. Castro, M. Cowie, A. Farrow-Gillespie, A. Herbert, M. Kauk, D. Mcelroy, N. Miller, Leslie Nelson, Luke Smith, T. Spain, S. Trest, N. Johnson, R. Butterfield, D. Dibella, K. Mayne, T. Newcomb, N. Rausch, C. Blomgren, H. W. Choi, Leon G. Epstein, S. Goldman, K. Krosschell, J. Krueger, J. Kurz, V. Rao, J. Parsons, V. Allen, A. Bielsky, K. Booker, A. Camuto, T. Carry, Peter G. Fuhr, M. Gibbons, J. Janas, H. Johnson, C. Kelly, L. S. Lord-Halvorson, S. Nicolarsen, S. Shea, V. Tran, G. Vanderveen, M. Yang, C. Zimmerman, P. Shieh, N. Parziale, L. Rao, J. Said, F. Shu, C. Skura, L. Staudt, G. Tennekoon, L. Adang, John F. Brandsema, M. Chadehumbe, J. Flickinger, E. Kichula, D. Stanford, M. Toms, J. Zigmont, M. Oskoui, S. Arpin, P. Dinunzio, P. Ingelmo, C. Poulin, G. Rivera, C. Sabapathy, M. Srour, S. Turgeon-Desilet, D. Zielinski, K. Selby, C. King, J. Lee, A. Michoulas, E. Roland, J. Vajsar, V. Chau, J. Dowling, R. Haldenby, M. Miki, S. So, S. I. Pascual, A. Bermejo, S. E. Garcia, S. G. Guixot, M. Moreno, M. D. P. T. Requero, M. D. Romero, Carolina Aguilar, F. M. Casadesus, M. Banda, M. Gallardo, G. Gili, M. Á. Molinero, M. Munoz, N. J. Palacios, B. P. Pascual, M. Plumed, A. F. Rucián, E. T. Tamargo, M. G. Viñola, S. Borell, M. Eckenweiler, Marcus Krüger, A. Pechmann, B. Rippberger, S. Stein, Sibylle Vogt, S. Wider, U. Schara, B. Andres, A. Marina, A. Ganfuss, P. Jachertz, H. Koelbel, K. Rupprich, E. Schroers, N. Sponemann, Claudio Bruno, C. Fiorillo, A. Garaventa, P. Lanteri, V. Lanzillotta, C. Manzitti, M. Pedermonte, P. Tacchetti, F. Trucco, A. Zuffi, R. D. Sanctis, L. Fanelli, M. Luigetti, C. Palermo, M. Pane, M. Piastra, S. Sivo, E. Gargaun, T. Gidaro, S. Gilabert, P. Léger, A. L. Moing, C. Lilien, Michèle Mayer, Q. Ollievier, J. Rambaud, J. Taytard, R. Vialle, T. Voit, F. Muntoni, L. D'Argenzio, P. Lister, A. Manzur, J. Domingos, D. Ramsey, V. Ricotti, L. Schottlaender, M. Scoto, S. Scuplak, V. Selby, V. Straub, S. Baily, M. Bertoli, A. Mayhew, R. M. Lofra, A. Murphy, Claire L Wood, N. Darín, J. Eldblom, E. Kimber, A. Kroksmark, A. Lindstedt, E. Michael, K. Sofou, N. Deconinck, A. Christiaens, Sandra Coppens, K. DeCock, E. D. V. voor, F. Dorban, G. Gilbert, S. Rooze, V. Tahon, R. Coster, R. Looven, A. Vanlander, D. Vens, H. Verhelst, B. Wenderickx, S. Wittevrongel, M. Farrar, N. Berthon-Jones, M. Doumit, K. Herbert, T. Kandula, M. Morrison, J. O'Brien, S. Richardson, H. Sampaio, H. Teoh, M. Ryan, K. Carroll, K. D. Valle, D. Villano, I. Woodcock, E. Yiu, D. Ardıçlı, C. Gunbey, V. G. Haliloglu, A. Karaduman, B. Konuşkan, F. G. Y. Sarikaya, E. Serdaroğlu, M. Tanyildiz, Ç. Temuçin, M. Yıldırım, O. Yilmaz, R. Arakawa, Y. Chiba, K. Eto, K. Hirasawa, T. Ikai, S. Ito, Y. Ito, Y. Kaburagi, H. Kaneko, S. Matsumaru, N. Matsushima, K. Mizuochi, S. Nagata, H. Nakatsukasa, A. Nishikawa, Y. Otani, T. Sato, M. Shichiji, K. Sugimoto, A. Takeshita, T. Yanagishita, A. Yamauchi, Y. Takeshima, T. Fujino, N. Fukuda, T. Lee, K. Oriyama, T. Shibano, H. Shimomura, T. Tachikawa, Y. Tanaka, N. Taniguchi, J. Chae, S. A. Choi, S. Chun, H. Jo, H. Kim, S. Y. Kim, J. S. Lee, B. C. Lim, H. Shin, W. Son, S. Chan, A. Chung, C. Yan, C. Stella, C. Joseph, C. Ng, H. Alvin, I. Janice, L. Wendy, M. N. Chui-San, N. Ki, T. Shun, W. Connie, W. Virginia, Y. Yvonne, Y. Jong, Tai-Heng Chen, P. Chou, Y. H. Chou, H. W. Chung, J. Hsu, Y. Ju, W. Liang, H. Shih, H. Wang, Y. C. Wu, Y. S. Zeng +397 moresemanticscholar +1 more sourceReduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch +11 morewiley +1 more sourceSingle‐Dose Gene‐Replacement Therapy for Spinal Muscular Atrophy
New England Journal of Medicine, 2017 J. Mendell, S. Al-Zaidy, R. Shell, W. Arnold, L. Rodino-Klapac, T. Prior, L. Lowes, L. Alfano, K. Berry, K. Church, J. Kissel, S. Nagendran, J. L'italien, D. Sproule, C. Wells, J. Cardenas, M. Heitzer, A. Kaspar, Sarah E. Corcoran, L. Braun, S. Likhite, Carlos J. Miranda, K. Meyer, K. Foust, A. Burghes, B. Kaspar +25 moresemanticscholar +1 more sourceAcoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar +5 morewiley +1 more source
