Results 171 to 180 of about 120,291 (395)
Correction to: Comparative All-Cause Mortality Among a Large Population of Patients with Spinal Muscular Atrophy Versus Matched Controls [PDF]
, 2022 Emma Viscidi, Maneesh Juneja, Jin Wang, Nasha Wang, Li Li, Wildon Farwell, Ishir Bhan, Corinne Makepeace, Karen Laird, Varant Kupelian, Susan Eaton, Anne Dilley, Susan A. Hall +12 moreopenalex +1 more sourceIdentification and characterization of a spinal muscular atrophy-determining gene
Cell, 1995 S. Lefebvre, L. Bürglen, S. Reboullet, O. Clermont, P. Burlet, L. Viollet, B. Bénichou, C. Cruaud, P. Millasseau, M. Zeviani, D. Paslier, J. Frézal, D. Cohen, J. Weissenbach, A. Munnich, J. Melki +15 moresemanticscholar +1 more sourceAnatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis
Annals of Neurology, EarlyView.Objective
Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede +10 morewiley +1 more sourceNusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait
Neurology InternationalSpinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...Asma AlTawari, Mohammad Zakaria, Walaa Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanay, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki +12 moredoaj +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, 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 sourceThe Epidemiology of Primary Lateral Sclerosis: Results from a Population‐Based Cohort
Annals of Neurology, EarlyView.Objective
In this population‐based study, we described the epidemiology of primary lateral sclerosis (PLS) in northern Italy and compared the clinical characteristics of patients with PLS to those with predominant upper motor neuron (PUMN) involvement and classic amyotrophic lateral sclerosis (ALS).Rosario Vasta, Enrico Matteoni, Giorgio Pellegrino, Antonio Canosa, Umberto Manera, Francesca Palumbo, Maurizio Grassano, Sara Cabras, Alessandra Maccabeo, Fabrizio D'Ovidio, Gabriele Mora, Salvatore Gallone, Elisa D'Angelo, Letizia Mazzini, Fabiola De Marchi, Cristina Moglia, Adriano Chiò, Andrea Calvo +17 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 sourceBioimaging of sense organs and the central nervous system in extant fishes and reptiles in situ: A review
The Anatomical Record, EarlyView.Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...Shaun P. Collin, Kara E. Yopak, Jenna M. Crowe‐Riddell, Victoria Camilieri‐Asch, Caroline C. Kerr, Hope Robins, Myoung Hoon Ha, Annalise Ceddia, Travis L. Dutka, Lucille Chapuis +9 morewiley +1 more source
