Results 131 to 140 of about 698,332 (299)
Evaluation of Protein Complexes in Muscular Atrophy Using Interaction Map Analysis
Journal of Mazandaran University of Medical Sciences, 2019 Background and purpose: Muscular atrophy is a condition derived from different diseases and aging. Molecular study of the disease condition can help in developing diagnostic methods and treatment approaches. In this study, protein interaction network was Mostafa Rezaei Tavirani, Farshad Okhovatian, Mona Zamanian Azodi +2 moredoaj Nusinersen 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, S. 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 sourceDorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda +12 morewiley +1 more sourceThe 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 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 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 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 source
