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المؤلفون: A. Yaworski, T. Duong, J. Low, R. Gee, K. Watson, M. Buu, B. Kaufman, J. Klotz, J. Day, J. Guzman, C. Tesi Rocha
المصدر: Neuromuscular Disorders. 32:S102
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5f3089eca8281c82179a843102dcfaf5Test
https://doi.org/10.1016/j.nmd.2022.07.250Test -
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المؤلفون: J Iff, C Johnson, S McKee, I Sehinovych, C McNeill, C Tesi-Rocha, H Kitchen
المصدر: Value in Health. 25:S240-S241
مصطلحات موضوعية: Health Policy, Public Health, Environmental and Occupational Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7cbe629ee7ba82bb4855b2169b8dadb3Test
https://doi.org/10.1016/j.jval.2021.11.1177Test -
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المؤلفون: B.D. Kaufman, A. Garcia, Z. He, M. Buu, C. Tesi-Rocha, J.W. Day, D.N. Rosenthal, H. Gordish-Dressman, C. Almond, T. Duong
المصدر: The Journal of Heart and Lung Transplantation. 41:S95
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Transplantation, Surgery, Cardiology and Cardiovascular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9876dcbc4057dbfad7749c9101baaffaTest
https://doi.org/10.1016/j.healun.2022.01.221Test -
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المؤلفون: Craig M. McDonald, Heather Gordish-Dressman, Erik K. Henricson, Tina Duong, Nanette C. Joyce, Sanjay Jhawar, Mika Leinonen, Fengming Hsu, Anne M. Connolly, Avital Cnaan, Richard T. Abresch, A. Dubrovsky, A. Kornberg, M. Ryan, R. Webster, W.D. Biggar, L.C. McAdam, J.K. Mah, H. Kolski, V. Vishwanathan, S. Chidambaranathan, Y. Nevo, K. Gorni, J. Carlo, M. Tulinius, T. Lotze, T.E. Bertorini, J.W. Day, P. Karachunski, P.R. Clemens, H. Abdel-Hamid, J. Teasley, N. Kuntz, S. Driscoll, J.B. Bodensteiner, A.M. Connolly, A. Pestronk, R.T. Abresch, E.K. Henricson, N.C. Joyce, C.M. McDonald, A. Cnaan, L.P. Morgenroth, R. Leshner, C. Tesi-Rocha, M. Thangarajh, T. Duong
المصدر: Neuromuscular Disorders. 28:897-909
مصطلحات موضوعية: Adult, Male, Spirometry, medicine.medical_specialty, Vital capacity, Adolescent, Duchenne muscular dystrophy, Vital Capacity, Pulmonary function testing, Young Adult, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Prospective cohort study, Glucocorticoids, Lung, Genetics (clinical), medicine.diagnostic_test, business.industry, medicine.disease, Respiratory Function Tests, Muscular Dystrophy, Duchenne, 030228 respiratory system, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Cardiology, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf9b84c2e41d28bd993caa8f829a84e5Test
https://doi.org/10.1016/j.nmd.2018.07.004Test -
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المؤلفون: S. Richardson, E. Kimber, H. Kim, Diana Castro, H. Johnson, A. C. Tesi Rocha, Matthias Eckenweiler, C. Manzitti, John W. Day, R. De Sanctis, M. Gormley, Mar Tulinius, Mirac Yildirim, C. M. Temucin, M. Gratacos Vinola, S. Matsumaru, F. Weber-Guzman, J. Kitsuwa-Lowe, Lavinia Fanelli, T. Sato, W. C. Virginia, J. H. Hsu, S. Nagata, A. Michoulas, Sally Dunaway, Mariacristina Scoto, R. Shell, R. Laine, D. DiBella, C. King, Jacqueline Montes, Haluk Topaloglu, Maryam Oskoui, Didem Ardicli, K. Rupprich, C. Stella, F. Dorban, Alan C Farrow-Gillespie, S. A. Choi, T. Ikai, W. C. Liang, N. Matsushima, PH Lister, Arnaud Vanlander, N. Rausch, T. T. Duong, Marika Pane, Melissa Gibbons, M. M. Homi, A. K. Kroksmark, B. Andres, Kristin J. Krosschell, S. Patnaik, L. Welsh, Eduardo F. Tizzano, M. Gallardo, Michèle Mayer, Sarada Sakamuri, W. Liew, T. Spain, M. Yang, Kayoko Saito, Edward C. Smith, L. Sanabria, Astrid Pechmann, H. Kaneko, Leslie Nelson, Basil T. Darras, C. Milleson, Janbernd Kirschner, R. Arakawa, Margot Morrison, Y. Kaburagi, P. Dinunzio, C. K.W. Joseph, M. Chadehumbe, Craig M. Zaidman, S. Nicolarsen, Hyung Ik Shin, Alberto Garaventa, James J. Dowling, J. S. Lee, K. Booker, A. Takeshita, D. McElroy, K. Carroll, D. Vens, Y. Chiba, L. Wand, C. Kelly, Luke Smith, H. Shimomura, M. Srour, J. B. Bodensteriner, B. Rippberger, A. Herbert, Eugenio Mercuri, H. Jo, J. Turner, A. Camuto, N. Parziale, J. O'Brien, N. Nelson, E. Serdaroglu, Jong-Hee Chae, V. Tahon, E. Toro Tamargo, L. Weimer, T. Voit, L. W.M. Wendy, J. Rambaud, G. Gilbert, C. Zimmerman, S. Kramer, D. McFall, Jennifer Perez, N. Berthon-Jones, Jessica Taytard, Marco Luigetti, J. Pisco Domingos, R. Van Der Looven, Genevieve D'Souza, C. Berde, E. Roland, M. de Los Angeles Tormos Munoz, J. Zigmont, S. Baily, S. Gilabert, H. Nakatsukasa, S. Trest, Bahadır Konuşkan, H. A. Ferreira Sampaio, Z. John Zhong, G. VanderVeen, V. Allen, C. Aguilar, N. Taniguchi, G. Ordonez, Elizabeth Kichula, F. Shu, M. N. Chui-San, M. Zinn, Anne M. Connolly, Ian R. Woodcock, Ayşe Karaduman, R. Haldenby, K. Hirasawa, F. Munell Casadesus, L.D.M. Peña, Vamshi K. Rao, Allan M. Glanzman, Claudia A. Chiriboga, A. Martinez Bermejo, John F. Brandsema, S. Epinosa Garcia, M. K. Schroth, T. Shibano, Richard Gee, Valeria Ricotti, Y. Ito, Y. Tanaka, S. Arpin, C. S. Yan, L. Schottlaender, Marco Piastra, M. Kauk, Francesco Muntoni, K. Sugimoto, Öznur Yilmaz, K. DeCock, Kathryn Selby, T. Yanagishita, Concetta Palermo, H. W. Chung, B. Taicher, Jiri Vajsar, K. Zilke, R. Gadeken, A. Yamauchi, Marta Bertoli, Nancy L. Kuntz, T. Tachikawa, C. Johnson, A. Mayhew, Jahannaz Dastgir, Y. J. Jong, P. C. Chou, G. Rivera, T. N. Shun, Y. H. Ju, N. Holuba La Marca, M. Toms, Matthew Civitello, Eugene Schneider, C. Lilien, S. Ito, C. Skura, Y. Yvonne, K. O'Reardon, Barry S. Russman, Janet Quigley, J. W. Said, B. Planas Pascual, R. J. Ramamurthi, Wildon Farwell, V. Selby, W. Y. Connie, M. Souris, Nicholas E. Johnson, M. Miki, N. Sponemann, Andrei Constantinescu, K. Mayne, H. H. Shih, B. Sanjanwala, Teresa Gidaro, D. Berry, Gihan Tennekoon, A. G. Le Moing, Danielle Ramsey, C. Poulin, S. Goldman, K. Watson, H. L. Teoh, N. J. Palacios, Tai-Heng Chen, A. C. Chung, Terri Carry, J. Coates, D. Zielinski, R. Vialle, F. G. Yildiz Sarikaya, Marcus Krüger, M. del Mar Garcia Romero, E. Michael, E. D. Austin, J. Janas, K. Engelstad, S. Y. Kim, M. Alavarez Molinero, Leon G. Epstein, Monique M. Ryan, Jean Flickinger, D. Benjamin, S. Wider, C. S. Davis, Jena M. Krueger, I. J.K. Janice, Darryl C. De Vivo, M. del Mar Melendez Plumed, Y. Takeshima, C. Gunbey, Serena Sivo, A. Christiaens, Q. Ollievier, Elizabeth Mirek, D. Stanford, Susan T. Iannaccone, Jonathan E. Kurz, D. Cook, C. S. Ng, A. Koka, V. Chau, M. del Pilar Tirado Requero, M. B. Gomez Garcia de la Banda, E. M. Yiu, Amy Pasternak, Rosangel Cruz, S. So, S. I. Pascual Pascual, V. G. Haliloglu, E. S. Schroers, P. Jachertz, C. Ortiz-Miller, Sandra Coppens, J. Lee, M. Popolizio, Michael Doumit, Rachel Salazar, Michelle A. Farrar, Peter G. Fuhr, M. Pedermonte, L. S. Lord-Halvorson, W. Leon, Y. S. Zeng, L. D'Argenzio, Russell J. Butterfield, C. Blomgren, Erika Finanger, S. Shea, Paola Tacchetti, N. Y. Ki, H. W. Choi, K. Oriyama, S. Wittevrongel, Catherine Siener, K. Mizuochi, M. Cowie, R. Van Coster, E. Gargaun, S. M. Scuplak, Sibylle Vogt, S. Stein, Tim Harrington, P. M. Ingelmo, J. Wootton, M. Tanyildiz, A. F. Rucian, Jonathan Marra, C. Frank Bennett, Claire L Wood, Nicolas Deconinck, Adnan Y. Manzur, Helene Verhelst, B. Purse, P. L. Léger, J. Cappell, S. Aziz-Zaman, H. Y. Wang, Claudio Bruno, S. Garcia Guixot, Robert Muni Lofra, Federica Trucco, S. M. Chun, Catherine E. Roberts, Ulrike Schara, Walter G. Bradley, K. L. De Valle, E. De Vos voor, S. Borell, A. Lim, Sophelia H. S. Chan, L. Rao, M. Shichiji, S. Rooze, T. M. Newcomb, Fouad Al-Ghamdi, Chiara Fiorillo, J. D. Endsley, L. Y. Sigurdardottir, Pallavi Anand, A. Zuffi, Julie A. Parsons, M. Kasper, A. Nishikawa, Sarah Gheuens, S. Turgeon-Desilet, T. Fujino, L. Staudt, Y. C. Wu, Jacinda B. Sampson, Paola Lanteri, Stephanie DeArmey, Partha S. Ghosh, Alexandra C. Ross, L. Adang, Laurent Servais, V. Tran, Alan Bielsky, Y. Otani, Navil F. Sethna, J. Hen, Perry B. Shieh, N. Fukuda, N. Miller, K. Eto, S. Paulose, Niklas Darin, C. Sabapathy, Robert J. Graham, Christopher Proud, Richard S. Finkel, Alexander G. Khandji, A. Della Marina, Adrian Murphy, Kathie M. Bishop, Tejaswi Kandula, Valentina Lanzillotta, Heather Szelag, Kalliopi Sofou, Y. H. Chou, Heike Koelbel, J. Eldblom, T. Lee, M. M. Martinez Moreno, Volker Straub, Laura E. Case, A. Lindstedt, G. Gili, A. Frank, H. C.C. Alvin, A. Ganfuss, Karen Herbert, Paul T. Golumbek, D. Villano, B. Wenderickx, B. C. Lim, W. S. Son
المساهمون: Schara, Ulrike (Beitragende*r), Ganfuss, Andrea (Beitragende*r), Koelbel, Heike (Beitragende*r), Rupprich, Katrin (Beitragende*r), Schroers, Ester Sarah (Beitragende*r), Sponemann, Nina (Beitragende*r), Çocuk Sağlığı ve Hastalıkları
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Movement disorders, animal diseases, Messenger, Oligonucleotides, Medizin, Spinal Muscular Atrophies of Childhood, 0302 clinical medicine, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Survival Analysis, Survival of Motor Neuron 2 Protein, Medicine (all), Respiration, General Medicine, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Artificial, Nusinersen, medicine.symptom, medicine.medical_specialty, Spinal, Injections, 03 medical and health sciences, Atrophy, General & Internal Medicine, Settore MED/41 - ANESTESIOLOGIA, medicine, Antisense, Survival analysis, business.industry, Spinal muscular atrophy, Motor neuron, medicine.disease, nervous system diseases, 030104 developmental biology, nervous system, RNA, Infantile onset, Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1902aea91371408a707bf0d8e637462Test
https://www.ncbi.nlm.nih.gov/pubmed/29091570Test -
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المؤلفون: A. Mayhew, H. Hilsden, John W. Day, Kristi J. Jones, C. Tesi Rocha, V. Straub, Maggie C. Walter, K Storch, Anne M. Sawyer, PG Pierre, M. James, Roberto Fernández-Torrón, Anthony Peduto, Andrew M. Blamire, K. Bushby, Jordi Díaz-Manera, T. Stojkovic, Eva Coppenrath, Sabine Krause
المصدر: Neuromuscular Disorders. 28:S6-S7
مصطلحات موضوعية: Dysferlinopathy, medicine.medical_specialty, business.industry, Outcome measures, Upper limb muscle, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, Semi quantitative, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47860a16fb95fa8bd652d66c064c8a00Test
https://doi.org/10.1016/s0960-8966Test(18)30307-9 -
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المؤلفون: S. Calligaris, A. Guzmán, A. Savransky, C. Buompadre, F. Lubieniecki, C. Tesi Rocha, D. Tiziano, V. Fano, E. Tizzano, P. Gravina, S. Monges
المصدر: Neuromuscular Disorders. 28:S57
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::13a117e745163a7f21b353b86829f9d6Test
https://doi.org/10.1016/j.nmd.2018.06.120Test -
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المصدر: Neuromuscular Disorders. 22:807
مصطلحات موضوعية: Sanger sequencing, Genetics, Genetic heterogeneity, Haplotype, Biology, DNA sequencing, symbols.namesake, Neurology, Single cell sequencing, Pediatrics, Perinatology and Child Health, symbols, Neurology (clinical), Copy-number variation, Genotyping, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bc1c923394136cc34cfe1d24a2905364Test
https://doi.org/10.1016/j.nmd.2012.06.021Test -
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المؤلفون: Thomas L. Winder, K. Nelson, Carsten G. Bönnemann, C. Reyes, Taeun Chang, Steven A. Moore, M. Taylor, C. Tesi Rocha
المصدر: Neuromuscular Disorders. 22:821
مصطلحات موضوعية: Proband, Mutation, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, Cardiomyopathy, medicine.disease_cause, medicine.disease, Inclusion bodies, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Myotilin, sense organs, Neurology (clinical), Muscular dystrophy, medicine.symptom, business, Myopathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::71ddeedf89fca032b800783297b0f3d2Test
https://doi.org/10.1016/j.nmd.2012.06.066Test