المؤلفون: Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: limb girdle muscular dystrophy, dysferlinopathy, PROMs, quality of life, clinical outcome assessments, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/0470816544d14c339d5608df7267ca17Test

المؤلفون: Catherine Siener, Marisa Birkmeier, Heather Gordish-Dressman, Erik K Henricson, Tina Duong, Cinrg-Dnhs Investigators, Alicia Fernandez-Fernandez, Craig M. McDonald, Jennifer Canbek, Leslie Nelson

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: Research Report, Duchenne muscular dystrophy, Male, medicine.medical_specialty, Supine position, Minimal Clinically Important Difference, MCID, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Clinical endpoint, Medicine, Humans, 030212 general & internal medicine, Prospective Studies, Child, Retrospective Studies, business.industry, Minimal clinically important difference, Muscle weakness, medicine.disease, time function tests, Muscular Dystrophy, Duchenne, Standard error, Neurology, Disease Progression, Functional status, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a561d7377c58a89c038d67077f2b77Test
http://europepmc.org/articles/PMC8673528Test

المؤلفون: Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, limb girdle muscular dystrophy, dysferlinopathy, PROMs, quality of life, clinical outcome assessments

العلاقة: https://figshare.com/articles/dataset/Table_1_Assessing_the_Relationship_of_Patient_Reported_Outcome_Measures_With_Functional_Status_in_Dysferlinopathy_A_Rasch_Analysis_Approach_docx/19335725Test

الإتاحة: https://doi.org/10.3389/fneur.2022.828525.s001Test
https://figshare.com/articles/dataset/Table_1_Assessing_the_Relationship_of_Patient_Reported_Outcome_Measures_With_Functional_Status_in_Dysferlinopathy_A_Rasch_Analysis_Approach_docx/19335725Test

المؤلفون: Helen E. Stephens, Robert A. English, Mary Proffitt Bunnell, Merit Cudkowicz, Katherine A Fetterman, Catherine Siener, Julaine Florence, Patricia L. Andres, Eric A. Macklin, Zachary Simmons, Edward J. Kasarskis, Margaret Allred, Travis Haines

المصدر: Muscle & Nerve. 56:710-715

مصطلحات موضوعية: Male, Longitudinal study, medicine.medical_specialty, Physiology, Vital Capacity, Muscle Strength Dynamometer, Isometric exercise, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscle nerve, Physical medicine and rehabilitation, Rating scale, Isometric Contraction, Physiology (medical), medicine, Humans, Longitudinal Studies, Muscle Strength, 030212 general & internal medicine, Amyotrophic lateral sclerosis, Alsfrs r, business.industry, Amyotrophic Lateral Sclerosis, Outcome measures, Middle Aged, medicine.disease, Sample size determination, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f1d603d7ed183262ab876140876badTest
https://doi.org/10.1002/mus.25586Test

المؤلفون: Benjamin D Schwartz, Kanneboyina Nagaraju, Avital Cnaan, Andrea L. Smith, Katharine Bushby, Catherine Siener, Lauren P. Morgenroth, Michela Guglieri, Mark Jaros, Phil Shale, John M. McCall, Heather Gordish-Dressman, Laurel J Mengle-Gaw, Nancy L. Kuntz, Edward C. Smith, Jean K. Mah, Diana Castro, Jesse M. Damsker, Craig M. McDonald, John N. van den Anker, Laurie S. Conklin, Paula R. Clemens, Yoram Nevo, Eric P. Hoffman, Richard S. Finkel, Mar Tulinius, Antonio Arrieta, Maya Shimony, Monique M. Ryan, Richard D. Webster

المصدر: Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Duchenne muscular dystrophy, Anti-Inflammatory Agents, Administration, Oral, Gastroenterology, Article, Bone remodeling, 03 medical and health sciences, 0302 clinical medicine, Prednisone, Internal medicine, medicine, Humans, Muscular dystrophy, Adverse effect, Child, Glucocorticoids, business.industry, medicine.disease, 3. Good health, Deflazacort, Muscular Dystrophy, Duchenne, 030104 developmental biology, Treatment Outcome, Child, Preschool, Prednisolone, Biomarker (medicine), Neurology (clinical), business, 030217 neurology & neurosurgery, Biomarkers, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ac8ee470e10009787fc6003bae2474Test
https://pubmed.ncbi.nlm.nih.gov/31451516Test

المؤلفون: Pallavi Anand, Catherine Siener, Alina Nicorici, Jerry R. Mendell, Kevin M. Flanigan, Leslie Nelson, Linda Lowes, Anne M. Connolly, Mary Michaeleen Cradock, Craig M. Zaidman, Paul T. Golumbek, Craig M. McDonald, Linda Johnson, Susan T. Iannaccone, Lindsay N. Alfano, Richard S. Finkel, Julaine Florence, Nancy L. Kuntz

المصدر: Musclenerve. 59(6)

مصطلحات موضوعية: 0301 basic medicine, Male, Weakness, Pediatrics, medicine.medical_specialty, Physiology, Duchenne muscular dystrophy, Prednisolone, Gross motor skill, Cushingoid, 030105 genetics & heredity, Weight Gain, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), medicine, Humans, Glucocorticoids, Muscle Weakness, business.industry, Infant, medicine.disease, Muscular Dystrophy, Duchenne, Bayley iii, Case-Control Studies, Child, Preschool, Cohort, Disease Progression, Neurology (clinical), medicine.symptom, business, Linear growth, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a064ff1d5823ce9581d0883723138beTest
https://pubmed.ncbi.nlm.nih.gov/30993732Test

المؤلفون: Jeanine Schierbecker, Catherine Siener, Julaine Florence, John W. Day, Janet Quigley, Alina Nicorici, Linda Johnson, Amy Pasternak, Lindsay N. Alfano, Anne M. Connolly, Jerry R. Mendell, Elizabeth C. Malkus, Linda Lowes, Craig M. McDonald, Craig M. Zaidman, Kevin M. Flanigan, Basil T. Darras, Jason M. Kelecic, Peter B. Kang, Paul T. Golumbek, Peter I. Karachunski, J. Philip Miller, Rebecca K. Gadeken, Pallavi Anand

المصدر: Muscle & Nerve. 54:681-689

مصطلحات موضوعية: Change over time, Vital capacity, medicine.medical_specialty, Physiology, business.industry, Duchenne muscular dystrophy, Repeated measures design, medicine.disease, Clinical trial, 03 medical and health sciences, Cellular and Molecular Neuroscience, FEV1/FVC ratio, Grip strength, 0302 clinical medicine, Physiology (medical), medicine, Physical therapy, 030212 general & internal medicine, Neurology (clinical), Non ambulatory, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::556f1f805d18be5c206ef1122e1b8aecTest
https://doi.org/10.1002/mus.25089Test

المؤلفون: M. Guglieri, J. Mah, Catherine Siener, Nancy L. Kuntz, J. Damsker, Craig M. McDonald, Diana Castro, Monique M. Ryan, Yoram Nevo, Paula R. Clemens, Eric P. Hoffman, L. Mengle-Gaw, Edward J. Smith, Richard D. Webster, Lauren P. Morgenroth, P. Shale, Heather Gordish-Dressman, Mar Tulinius, Kanneboyina Nagaraju, Richard S. Finkel

المصدر: Neuromuscular Disorders. 29:S166

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Duchenne muscular dystrophy, Internal medicine, Pediatrics, Perinatology and Child Health, Cardiology, Medicine, Neurology (clinical), business, medicine.disease, Genetics (clinical), Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c40abead7c7553c99b71b7bacd252e64Test
https://doi.org/10.1016/j.nmd.2019.06.452Test

المؤلفون: John W. Day, Elizabeth C. Malkus, Craig M. McDonald, Janet Quigley, Kevin M. Flanigan, Basil T. Darras, Linda Lowes, Lindsay N. Alfano, Alina Nicorici, Jerry R. Mendell, Paul T. Golumbek, Linda Johnson, Peter I. Karachunski, Peter B. Kang, J. Philip Miller, Catherine Siener, Craig M. Zaidman, Julaine Florence, Jason M. Kelecic, Anne M. Connolly, Jeanine Schierbecker, Amy Pasternak

المصدر: Muscle & Nerve. 51:522-532

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Physiology, business.industry, Duchenne muscular dystrophy, Treatment outcome, medicine.disease, Therapeutic trial, Pulmonary function testing, Cellular and Molecular Neuroscience, Quality of life, Physiology (medical), Multicenter trial, Physical therapy, Medicine, Neurology (clinical), Non ambulatory, Young adult, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b92b255e728363a16bdfd45e5094a5f8Test
https://doi.org/10.1002/mus.24346Test

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