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المؤلفون: Basil Darras, Eugenio Mercuri, Kevin Strauss, John Day, Yin-Hsiu Chien, Ricardo Masson, Melissa Wigderson, Iulian Alecu, Nicolas Ballarini, Lesa Mehl, Jonathan Marra, Anne Connolly
المصدر: Wednesday, April 26.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f2f9312ba7885e01105dc3f3eefcd0ceTest
https://doi.org/10.1212/wnl.0000000000202555Test -
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المؤلفون: Sally Dunaway Young, Jacqueline Montes, Jonathan Marra, Carol Ewing Garber, Rosangel Cruz, Claudia A. Chiriboga, Samantha S. Kramer, Rachel Salazar, Darryl C. De Vivo
المصدر: Muscle & Nerve. 54:836-842
مصطلحات موضوعية: Reproducibility, medicine.medical_specialty, Physiology, Intraclass correlation, Spinal muscular atrophy, SMA, medicine.disease, Pearson product-moment correlation coefficient, Manual Muscle Testing, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, Physical medicine and rehabilitation, Convergent validity, Physiology (medical), symbols, Criterion validity, Physical therapy, medicine, 030212 general & internal medicine, Neurology (clinical), Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::936f5d04b69e4175d3b718b51437d688Test
https://doi.org/10.1002/mus.25120Test -
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المؤلفون: Bradford Coffee, Kristin Engelstad, Claudia A. Chiriboga, Kurenai Tanji, Darryl C. De Vivo, Jahannaz Dastgir, Jonathan Marra, Arunkanth Ankala
المصدر: Muscle & Nerve. 51:767-772
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, Physiology, business.industry, Facial weakness, medicine.disease, Congenital myopathy, Congenital neuromuscular disorder, Hypotonia, Cellular and Molecular Neuroscience, Exon, Nemaline myopathy, Physiology (medical), medicine, Old Order Amish, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c612cd9277d3fe4003a04beb9cec1176Test
https://doi.org/10.1002/mus.24528Test -
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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: Jonathan Marra, Sally Dunaway, Vanessa Battista, Megan Montgomery, Linda S. Hynan, Darryl C. De Vivo, Benjamin Koo, Susan T. Iannaccone, Jacqueline Montes, Petra Kaufmann
المصدر: Neuromuscular Disorders. 20:162-165
مصطلحات موضوعية: Male, Parents, medicine.medical_specialty, Adolescent, Psychometrics, Statistics as Topic, Spinal Muscular Atrophies of Childhood, Outcome assessment, Physical medicine and rehabilitation, Quality of life (healthcare), Surveys and Questionnaires, Outcome Assessment, Health Care, Humans, Medicine, Interpersonal Relations, Child, Genetics (clinical), Reliability (statistics), business.industry, Reproducibility of Results, Spinal muscular atrophy, SMA, medicine.disease, Self Concept, humanities, Telephone, Clinical trial, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, Physical therapy, Female, Neurology (clinical), Limited mobility, business, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::400f8863f7d345680e3960f37cbbc60fTest
https://doi.org/10.1016/j.nmd.2009.12.002Test -
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المؤلفون: Maryam Oskoui, Sally Dunaway, Douglas M. Sproule, Megan Montgomery, Allan M. Glanzman, Jean Flickinger, Jacqueline Montes, Jonathan Marra, A. Reghan Foley, Basil T. Darras, Maryjane Benton, Petra Kaufmann, Michelle L. Yang, Susan Riley, Clifton L. Gooch, Janet Quigley, Darryl C. De Vivo, Wendy K. Chung, William B. Martens, Peter B. Kang, Jessica O'Hagen, Richard S. Finkel, Patricia A. Ryan, Michael P. McDermott
المصدر: Neurology. 83(9)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Palliative care, Clinical study design, Infant, Biology, Spinal Muscular Atrophies of Childhood, Confidence interval, Article, Clinical trial, Cohort Studies, Interquartile range, Research Design, Physical therapy, medicine, Humans, Nusinersen, Female, Neurology (clinical), Prospective cohort study, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a06e1232f7b6f6bb2b1f07dda80c9cdTest
https://pubmed.ncbi.nlm.nih.gov/25080519Test -
7
المصدر: Journal of child neurology. 30(6)
مصطلحات موضوعية: Male, medicine.medical_specialty, Ataxia, Adolescent, Motor Activity, Motor function, Young Adult, Physical medicine and rehabilitation, Rating scale, Predictive Value of Tests, medicine, Humans, Child, Giant axonal neuropathy, Neurologic Examination, Clinical study design, Disease progression, Reproducibility of Results, medicine.disease, Clinical trial, Friedreich Ataxia, Giant Axonal Neuropathy, Research Design, Child, Preschool, Pediatrics, Perinatology and Child Health, Physical therapy, Disease Progression, Female, Neurology (clinical), medicine.symptom, Psychology, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7661aa0c6c94ca45802f06d0ae91f263Test
https://pubmed.ncbi.nlm.nih.gov/25186661Test -
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المؤلفون: Douglas M. Sproule, Lisa A. Roth, Bethany L. Johnson-Kerner, Nicole Holuba LaMarca, Jonathan Marra
المصدر: Neuromuscular disorders : NMD. 24(1)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Neurofilament, Adolescent, Biology, Pathogenesis, Young Adult, Keratin, medicine, Humans, Intermediate filament, Cytoskeleton, Child, Genetics (clinical), Giant axonal neuropathy, chemistry.chemical_classification, Gigaxonin, Anatomy, medicine.disease, Phenotype, Neurology, chemistry, Giant Axonal Neuropathy, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49baafca02057a1c94b9803006b2b593Test
https://pubmed.ncbi.nlm.nih.gov/23890932Test -
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المؤلفون: Sally Dunaway, A. Reghan Foley, Peter B. Kang, Vanessa Battista, Jonathan Marra, Rabi Tawil, Susan Riley, Clifton L. Gooch, Benjamin Koo, Andrei Constantinescu, Maryjane Benton, Mark Punyanitya, Jean Flickinger, Wendy K. Chung, Richard S. Finkel, Jessica O'Hagen, William B. Martens, Janet Quigley, Patricia A. Ryan, Basil T. Darras, Maryam Oskoui, Megan Montgomery, Douglas M. Sproule, Allan M. Glanzman, Michele L. Yang, Jacqueline Montes, Petra Kaufmann, Darryl C. De Vivo, Michael P. McDermott
المصدر: Neurology. 79(18)
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Spinal Muscular Atrophies of Childhood, Pulmonary function testing, Cohort Studies, Young Adult, Physical medicine and rehabilitation, Medicine, Humans, Longitudinal Studies, Muscle Strength, Prospective Studies, Prospective cohort study, Child, Motor skill, business.industry, Infant, Spinal muscular atrophy, Articles, SMA, medicine.disease, Compound muscle action potential, Clinical trial, Motor Skills, Child, Preschool, Physical therapy, Quality of Life, Respiratory Mechanics, Female, Neurology (clinical), business, Cohort study, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aeb82eae91ceacdbc92be74ae5301dbTest
https://pubmed.ncbi.nlm.nih.gov/23077013Test -
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المؤلفون: Diana Bharucha-Goebel, Wadih M. Zein, Carsten G. Bönnemann, R. Foley, Minal Jain, M. Waite, Tanya J. Lehky, Jonathan Marra
المصدر: Molecular Therapy. 24:S282
مصطلحات موضوعية: medicine.medical_specialty, Nerve fiber layer, Motor nerve, 02 engineering and technology, 010402 general chemistry, 01 natural sciences, Internal medicine, Drug Discovery, Genetics, Medicine, Molecular Biology, Giant axonal neuropathy, Pharmacology, business.industry, Gigaxonin, 021001 nanoscience & nanotechnology, Spinal cord, medicine.disease, 0104 chemical sciences, Clinical trial, medicine.anatomical_structure, Peripheral nervous system, Cardiology, Molecular Medicine, 0210 nano-technology, business, Natural history study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::36e13895250d68b648bd3907aa57fe6eTest
https://doi.org/10.1016/s1525-0016Test(16)33523-7