المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras

المصدر: ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Adolescent, Models, Neurological, Gene Dosage, Spinal Muscular Atrophies of Childhood, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Humans, Survival of Motor Neuron 2 Protein, Models, Internal medicine, medicine, Preschool, business.industry, Repeated measures design, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Neurological, Cohort, Neurology (clinical), sma, Age of onset, business, 030217 neurology & neurosurgery, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eecTest
https://doi.org/10.1002/ana.25900Test

المؤلفون: Jacqueline Montes, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras, Francesca Bovis, Francesco Muntoni, Maria Pia Sormani, John W. Day, Marion Main, Mariacristina Scoto, Roberto De Sanctis, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Robert Muni Lofra, Marika Pane, Volker Straub, Richard S. Finkel, Giorgia Coratti, Danielle Ramsey, Tina Duong, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew

المصدر: Muscle & Nerve. 59:426-430

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Physiology, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, SMA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Spinal Muscular Atrophy Type 2, 0302 clinical medicine, Muscle nerve, medicine.anatomical_structure, Physical medicine and rehabilitation, Physiology (medical), Functional abilities, medicine, Upper limb, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe8e2dcdbcb94b0e97b2e4a26b5c264dTest
https://doi.org/10.1002/mus.26419Test

المؤلفون: Rod T Mitchell, Sadhanandham Punniyakodi, Tim Cheetham, Volker Straub, Eric Hughes, Claire L Wood, Michela Guglieri, Robert Muni-Lofra, Kieren G. Hollingsworth, Anna Mayhew

المصدر: Wood, C, Hollingsworth, K G, Hughes, E, Punniyakodi, S, Muni-Lofra, R, Mayhew, A, Mitchell, R T, Guglieri, M, Cheetham, T & Straub, V 2021, ' Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area ', European Journal of Endocrinology, vol. 184, no. 1, pp. 67–79 . https://doi.org/10.1530/EJE-20-0709Test

مصطلحات موضوعية: Male, Delayed puberty, medicine.medical_specialty, Adolescent, Bone density, medicine.drug_class, Endocrinology, Diabetes and Metabolism, Duchenne muscular dystrophy, 030209 endocrinology & metabolism, Injections, Intramuscular, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Bone Density, Internal medicine, Humans, Medicine, Testosterone, Muscular dystrophy, Child, Muscle, Skeletal, Glucocorticoids, Puberty, Delayed, business.industry, Puberty, Testosterone (patch), General Medicine, medicine.disease, Muscular Dystrophy, Duchenne, Regimen, Treatment Outcome, Patient Satisfaction, 030220 oncology & carcinogenesis, Androgens, medicine.symptom, Gonadotropin, business, Body mass index, Muscle Contraction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f61726377ad3c63c3ea7c96730d592fTest
https://www.pure.ed.ac.uk/ws/files/172721074/Wood_et_al_Accepted_Manuscript.pdfTest

المؤلفون: Grace McMacken, Robert Muni-Lofra, Sandra Moreira, Hanns Lochmüller, Michela Guglieri, Geraldine Bailey, Maggie Williams, Anna Mayhew, Gail Eglon, Debbie Smith, Volker Straub, Teresinha Evangelista, Libby Wood, Chiara Marini-Bettolo

المصدر: Journal of Neurology

مصطلحات موضوعية: 0301 basic medicine, Spirometry, Adult, Male, medicine.medical_specialty, Vital capacity, Statistics as Topic, Vital Capacity, macromolecular substances, 030105 genetics & heredity, Facioscapulohumeral dystrophy, Severity of Illness Index, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Facioscapulohumeral muscular dystrophy, Humans, Respiratory system, Aged, Original Communication, medicine.diagnostic_test, business.industry, Restrictive lung function, Middle Aged, medicine.disease, Respiration Disorders, Muscular Dystrophy, Facioscapulohumeral, 3. Good health, Respiratory Function Tests, Neurology, Respiratory impairment, Physical therapy, Breathing, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3601d11b82804540bb3ec0d5b1cc76a1Test
http://europepmc.org/articles/PMC5486574Test

المؤلفون: Giorgia Coratti, Danielle Ramsey, Richard Gee, Janet Quigley, John W. Day, Lavinia Fanelli, Basil T. Darras, Roberto De Sanctis, Tina Duong, Matt Civitello, Mariacristina Scoto, Eugenio Mercuri, Amy Pasternak, Nicola Forcina, Michael P. McDermott, Gihan Tennekoon, William B. Martens, Allan M. Glanzman, Claudia A. Chiriboga, Marion Main, Elena S. Mazzone, Jacqueline Montes, Anna Mayhew, Francesco Muntoni, Sally Dunaway Young, Richard S. Finkel, Elizabeth Mirek, Darryl C. De Vivo, Rachel Salazar, Robert Muni Lofra

المصدر: Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 30(3)

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, 030506 rehabilitation, medicine.medical_specialty, Contracture, Knee Joint, Motor Disorders, Physical Therapy, Sports Therapy and Rehabilitation, Motor function, Muscular Atrophy, Spinal, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Physical medicine and rehabilitation, Medicine, Humans, Range of Motion, Articular, spinal muscular atrophy, Muscle contracture, business.industry, Spinal muscular atrophy, medicine.disease, SMA, Lower Extremity, Pediatrics, Perinatology and Child Health, Female, Hip Joint, medicine.symptom, 0305 other medical science, business, Range of motion, 030217 neurology & neurosurgery, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5228e7897390d12699264a66279fbd52Test
https://pubmed.ncbi.nlm.nih.gov/29924071Test

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

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