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المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)مصطلحات موضوعية: SARS-CoV-2, COVID-19, Remote assessment, Neuromuscular Diseases, General Medicine, Telemedicine, Outcome measure, Telehealth, Clinical trials, Clinical outcome assessments (COA), Medicine, Humans, Pharmacology (medical), Position Statement, Pandemics, Genetics (clinical), Neuromuscular disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e0d3b6631be86b57c9402c3646e467Test
http://europepmc.org/articles/PMC8726521Test -
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المؤلفون: Stephen J. Kolb, Jacqueline Montes, Marika Pane, Giorgia Coratti, Simona Lucibello, Marco Perulli, Eugenio Mercuri, Roberto De Sanctis, Richard S. Finkel, Darryl C. De Vivo, Basil T. Darras, Maria Carmela Pera
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Natural history, lcsh:Medicine, Review, Neonatal onset, Disease, Spinal Muscular Atrophies of Childhood, CHOP, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, lcsh:R, Infant, Newborn, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Clinical trial, Settore MED/26 - NEUROLOGIA, Phenotype, 030104 developmental biology, Italy, Cohort, business, CHOP INTEND, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db75db350724f0c00b7760581e5165a7Test
http://link.springer.com/article/10.1186/s13023-020-01356-1Test -
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المؤلفون: Eugene Schneider, C.F. Bennett, Eugenio Mercuri, Nancy L. Kuntz, Wildon Farwell, Basil T. Darras, Jacqueline Montes, Z.J. Zhong, Haluk Topaloglu, John Su, Sarah Gheuens, Claudia A. Chiriboga, Francesco Muntoni, Richard S. Finkel
المصدر: Neuropediatrics. 48:S1-S45
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, General Medicine, Spinal muscular atrophy, medicine.disease, SMA, 03 medical and health sciences, 030104 developmental biology, Interim, Pediatrics, Perinatology and Child Health, medicine, Nusinersen, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5d1a711ca30feaf6ad0e80166da43e6bTest
https://doi.org/10.1055/s-0037-1602912Test -
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المؤلفون: C. Frank Bennett, John W. Day, Kathie M. Bishop, Eugene Schneider, Frank Rigo, Daniel A. Norris, Richard S. Finkel, Jiri Vajsar, Gene Hung, Jacqueline Montes, Mason Yamashita, Shuting Xia, Darryl C. De Vivo, Claudia A. Chiriboga
المصدر: The Lancet. 388:3017-3026
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, General Medicine, Spinal muscular atrophy, SMN1, Motor neuron, medicine.disease, Interim analysis, Surgery, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Tolerability, Internal medicine, medicine, Nusinersen, Adverse effect, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::252b48c9096ea07b649a3809b33741ffTest
https://doi.org/10.1016/s0140-6736Test(16)31408-8 -
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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: Maria Carmela Pera, Amy Pasternak, John W. Day, Marion Main, Sally Dunaway, Lavinia Fanelli, Basil T. Darras, Marika Pane, Robert Muni Lofra, Richard S. Finkel, Eugenio Mercuri, Maria Sframeli, Elena S. Mazzone, Darryl C. De Vivo, Anna Mayhew, Giorgia Coratti, Matthew Civitello, Rachel Salazar, Francesco Muntoni, Roberto De Sanctis, Mariacristina Scoto, Jacqueline Montes, Sonia Messina, Danielle Ramsey, Leonardo Lapenta, Tina Duong, Nicola Forcina, Simona Lucibello, Laura Antonaci
المصدر: BMC Neurology
مصطلحات موضوعية: Quality of life, Adult, Male, 0301 basic medicine, medicine.medical_specialty, Activities of daily living, Carers, Adolescent, Patients, Clinical Neurology, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, Clinical trials, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Activities of Daily Living, Outcome Assessment, Health Care, medicine, Content validity, Humans, Clinical significance, Child, business.industry, General Medicine, Spinal muscular atrophy, Focus Groups, medicine.disease, SMA, Focus group, Clinical trial, 030104 developmental biology, Caregivers, Female, Outcome Assessment (Health Care), Neurology (clinical), Scale (social sciences), Physical therapy, business, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96fffe7d8a657e5001cdfa7d35ebe270Test
http://hdl.handle.net/10807/100118Test -
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المؤلفون: C.F. Bennett, John Su, Eugenio Mercuri, Jacqueline Montes, Haluk Topaloglu, Wildon Farwell, Z.J. Zhong, Eugene Schneider, C.A. Chiriboga, Richard S. Finkel, Nancy L. Kuntz, Basil T. Darras, Sarah Gheuens
المصدر: European Journal of Paediatric Neurology. 21:e14-e15
مصطلحات موضوعية: medicine.medical_specialty, business.industry, General Medicine, Spinal muscular atrophy, 030204 cardiovascular system & hematology, SMA, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Pediatrics, Perinatology and Child Health, medicine, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ba28de7f60688cf38ab28705212bc490Test
https://doi.org/10.1016/j.ejpn.2017.04.1219Test -
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المؤلفون: Richard Buchsbaum, Petra Kaufmann, Alexandra I. Barsdorf, Rachel Arbing, Jacqueline Montes, John L.P. Thompson, null For The QALS Study Group
المصدر: Amyotrophic Lateral Sclerosis. 10:374-377
مصطلحات موضوعية: Ubiquinone, Data management, MEDLINE, Article, law.invention, Placebos, Clinical Trials, Phase II as Topic, Randomized controlled trial, law, Humans, Web application, Medicine, Randomized Controlled Trials as Topic, Safety monitoring, Internet, business.industry, Amyotrophic Lateral Sclerosis, Vitamins, General Medicine, medicine.disease, Clinical trial, Neurology, Data analysis, Database Management Systems, Electronic data, Neurology (clinical), Medical emergency, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3593b4eb2a929aeab8a05cf7b7f06aeTest
https://doi.org/10.3109/17482960802378998Test -
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المؤلفون: Richard Buchsbaum, Petra Kaufmann, Alexandra Barsdorf, Rachel Arbing, Jacqueline Montes, John Thompson, null For The Qals Study Group
المصدر: Amyotrophic Lateral Sclerosis. :1-16
مصطلحات موضوعية: Neurology, Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3970416befee665c45cdf42023079862Test
https://doi.org/10.1080/17482960802378998Test -
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المؤلفون: Paul H. Gordon, Carolyn Doorish, Beatrice Cheng, Hiroshi Mitsumoto, Jacqueline Montes, Beverly Diamond
المصدر: Amyotrophic Lateral Sclerosis. 8:292-295
مصطلحات موضوعية: medicine.medical_specialty, Longitudinal study, Time Factors, Activities of daily living, Vital Capacity, Poison control, Walking, Timed Up and Go test, law.invention, Double-Blind Method, Quality of life, Randomized controlled trial, Predictive Value of Tests, law, Activities of Daily Living, Injury prevention, medicine, Humans, Longitudinal Studies, Postural Balance, business.industry, Amyotrophic Lateral Sclerosis, Glatiramer Acetate, General Medicine, Logistic Models, Neurology, Predictive value of tests, Quality of Life, Physical therapy, Accidental Falls, Neurology (clinical), Peptides, business, human activities, Immunosuppressive Agents
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182ed7d1a426cb673699e5389b760973Test
https://doi.org/10.1080/17482960701435931Test