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Spinal Surgery in Spinal Muscular Atrophy
Journal of Pediatric Orthopaedics, 1985 Fifteen patients with surgical treatment of spinal muscular atrophy were reviewed. The curve pattern was thoracic in 3, thoracolumbar in 11, and double thoracic and thoracolumbar in 1. Follow-up averaged 31 months. Eleven patients underwent posterior spinal fusion with Harrington instrumentation, with segmental wiring in four, and two had Luque ...Y H, Daher, J E, Lonstein, R B, Winter, D S, Bradford +3 moreopenaire +2 more sourcesSpinal Muscular Atrophy
Seminars in Neurology, 1998 The history of the spinal muscular atrophies (SMA) began in the 1890s with Guido Werdnig and Johann Hoffmann. Together, their papers present a rather complete picture of the clinical and pathologic aspects of infantile SMA: onset during the first year of life, occurrence in siblings with normal parents, progressive floppiness and weakness, hand tremor, openaire +2 more sourcesSpinal Muscular Atrophy Diagnostics
Journal of Child Neurology, 2007 Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene ( SMN), which exists in 2 nearly identical copies ( SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy. openaire +2 more sourcesSpinal Muscular Atrophy
2017 Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces quality and span of life. Survival motor neuron gene abnormalities are most common, but other genetic abnormalities have been Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel +2 moreopenaire +1 more sourceSafety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Lancet Neurology, 2022 E. Mercuri, N. Deconinck, E. Mazzone, A. Nascimento, M. Oskoui, Kayoko Saito, C. Vuillerot, G. Baranello, O. Boespflug-Tanguy, N. Goemans, J. Kirschner, A. Kostera-Pruszczyk, L. Servais, M. Gerber, K. Gorni, O. Khwaja, H. Kletzl, R. Scalco, H. Staunton, W. Yeung, Carmen Martín, P. Fontoura, J. Day, J. Volpe, J. Posner, U. Kellner, R. Quinlivan, S. Fuerst-Recktenwald, A. Marquet, Nicoletta Mülhardt, D. Trundell, A. Daron, S. Delstanche, Bruninx Romain, F. Farra, O. Schneider, I. Balikova, P. Delbeke, I. Joniau, V. Tahon, S. Wittevrongel, E. Vos, I. Casteels, L. Waele, C. Cassiman, L. Prové, D. Kinoo, Lisa Vancampenhout, M. V. Hauwe, A. V. Impe, A. P. D. Q. Araújo, Aline Chacon Pereira, Flávia Nardes, L. Haefeli, J. Rossetto, J. A. Pereira, M. F. Rebel, Craig Campbell, S. Sharan, W. McDonald, C. Scholtes, Jeannie Mah, M. Sframeli, A. Chiu, J. Hagel, R. Beneish, Connie Pham, D. Toffoli, S. Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huang, Cheng Qian, Li Shen, Ying Xiao, Z. Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Huihui Dong, Ying Liu, T. Sang, Cui-jie Wei, Jing Wen, Yiwen Cao, X. Lv, Jingjing Zhao, Wenzhu Li, Lun Qin, N. Barišić, Martina Galiot Delic, P. K. Ivkić, N. Vukojević, Ivana Kern, B. Najdanovic, M. Skugor, T. Gidaro, A. Seferian, S. D. Lucia, E. Barreau, Nabila Mnafek, M. Momtchilova, Hélène Pêche, Carole Valherie, Allison Grange, C. Lilien, Darko Milaščević, Shotaro Tachibana, C. Ravelli, R. Cardaş, L. V. Brande, Jean-Baptiste Davion, S. Coopman, I. Bouacha, P. Debruyne, S. Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, I. Desguerre, C. Barnerias, M. Semeraro, D. Bremond-Gignac, Lénaïc Bruere, Maxence Rateaux, E. Deladrière, Virginie Germa, Y. Péréon, A. Magot, Sandra Mercie, F. Billaud, L. Goff, G. Letellier, Aurélie Portefaix, S. Fontaine, C. De-Montferrand, Laure Le-Goff, Manel Saidi, N. Bouzid, A. Barrière, M. Tinat, Michelle Dreesbach, W. Lagrèze, Bettina Michaelis, Fanni E Molnár, D. Seger, Sibylle Vogt, E. Bertini, A. D’Amico, S. Petroni, Annamaria Bonetti, A. Carlesi, I. Mizzoni, Claudio Bruno, E. Priolo, G. Rao, S. Morando, P. Tacchetti, Ambra Zuffi, G. Comi, R. Brusa, S. Corti, V. Daniele, A. Govoni, F. Magri, Valeria Minorini, S. Osnaghi, F. Abbati, F. Fassini, M. Foà, Amaqlia Lopopolo, M. Meneri, Francesca Zoppas, V. Parente, R. Masson, S. B. Marzoli, D. Santarsiero, M. Sierra, Gemma Tremolada, M. Arnoldi, Marta Viganò, R. Zanin, G. Amorelli, C. Barresi, G. D'Amico, L. Orazi, Giorgia Coratti, K. Haginoya, Atsuko Kato, Y. Morishita, R. Kira, K. Akiyama, M. Goto, Yuji Mori, M. Okamoto, Sakiko Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, S. Watanabe, M. Omori, T. Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Hitoshi Osaka, Manami Ohashi, N. Ishikawa, Yousuke Harada, K. Fudeyasu, K. Hirata, Kana Michiue, K. Ueda, S. Yashiro, Maiko Seki, N. Sano, A. Uemura, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, M. Kuma, A. Frączek, M. Jędrzejowska, A. Lusakowska, Agnieszka Czeszyk-Piotrowicz, W. Hautz, Klaudia Rakusiewicz, Małgorzata Burlewicz, Zuzanna Gierlak-Wójcicka, Malwina Kępa, Adam Sikorski, M. Sobieraj, M. Mazurkiewicz-Bełdzińska, Anna Lemska, S. Modrzejewska, M. Koberda, U. Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, B. Steinborn, M. Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, M. Stopa, E. Gajewska, Beata Pusz, D. Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, A. Monakhova, Yulia Papina, Olga Shidlovsckaia, V. Rašić, V. Brankovic, A. Kosać, O. Djokić, Vesna Jaksic, A. Pepic, Jelena Martinovic, F. M. Casadesus, E. Tizzano, N. M. Begué, C. W. Dod, O. Subirà, B. P. Pascual, E. T. Tamargo, M. Garrido, J. Romero, M. Salinas, A. N. Osorio, A. Cortés, Enrique Jiménez Gañán, Simone Dowon Suh, J. M. Cantillo, O. Moya, N. Padrós, S. Urraca, H. Valdivia, S. Pascual, Sofia Manuel, Susana Noval Martin, Paul Burnham, S. Garcia, Mercedes Martínez Moreno, H. Topaloğlu, I. Oncel, Nesibe Eroglu Ertugrul, B. Konuşkan, B. Eldem, S. Kadayıfçılar, I. Alemdaroğlu, A. Karaduman, O. Yilmaz, Neslihan Bilgin, S. Sarı, C. Chiriboga, Steven Kane, John Lee, D. Rome-Martin, J. Day, Shannon Beres, T. Duong, R. Gee, S. Young +317 moresemanticscholar +1 more source
