-
1دورية أكاديمية
المؤلفون: Claire L Wood, Kieren G Hollingsworth, Edrina Bokaie, Eric Hughes, Robert Muni-Lofra, Anna Mayhew, Rod T Mitchell, Michela Guglieri, Joseph McElvaney, Timothy D Cheetham, Volker Straub
المصدر: Endocrine Connections, Vol 12, Iss 12, Pp 1-12 (2023)
مصطلحات موضوعية: puberty, duchenne muscular dystrophy, testosterone, muscle mri, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://ec.bioscientifica.com/view/journals/ec/12/12/EC-23-0245.xmlTest; https://doaj.org/toc/2049-3614Test
-
2دورية أكاديمية
المؤلفون: Robert Muni-Lofra, Lindsay B. Murphy, Kate Adcock, Maria E. Farrugia, Joseph Irwin, James B. Lilleker, John McConville, Andria Merrison, Matt Parton, Liz Ryburn, Mariacristina Scoto, Chiara Marini-Bettolo, Anna Mayhew
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: spinal muscular atrophy, standards of care, neuromuscular diseases, real-world data, United Kingdom, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.866243/fullTest; https://doaj.org/toc/1664-2295Test
-
3دورية أكاديمية
المصدر: Journal of Clinical Medicine, Vol 10, Iss 23, p 5517 (2021)
مصطلحات موضوعية: pain, neuromuscular diseases, LGMDR9, limb girdle muscular dystrophy, pain assessment, pain management, Medicine
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Rafael S. Rodriguez-Torres, David Uher, Emma L. Gay, Giorgia Coratti, Sally Dunaway Young, Annemarie Rohwer, Robert Muni Lofra, Darryl C. De Vivo, Michio Hirano, Nancy W. Glynn, Jacqueline Montes
المصدر: Journal of Clinical Medicine; Volume 12; Issue 10; Pages: 3458
مصطلحات موضوعية: fatigue, fatigability, spinal muscular atrophy, patient-reported outcome measure, perceived fatigability
وصف الملف: application/pdf
العلاقة: Clinical Neurology; https://dx.doi.org/10.3390/jcm12103458Test
-
5دورية أكاديمية
المؤلفون: Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni
المصدر: Journal of Clinical Medicine; Volume 12; Issue 5; Pages: 1920
مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy
وصف الملف: application/pdf
العلاقة: Clinical Neurology; https://dx.doi.org/10.3390/jcm12051920Test
-
6دورية أكاديمية
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
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/fullTest; https://doaj.org/toc/1664-2295Test; https://doaj.org/article/0470816544d14c339d5608df7267ca17Test
الإتاحة: https://doi.org/10.3389/fneur.2022.828525Test
https://doaj.org/article/0470816544d14c339d5608df7267ca17Test -
7
المؤلفون: Maggie C. Walter, Pascal Laforêt, W. Ludo van der Pol, Elena Pegoraro, Shahram Attarian, Bart Bartels, Ksenija Gorni, Nathalie Goemans, Nicole Gusset, Victoria Hodgkinson, Tim Hagenacker, Janbernd Kirschner, Andrea Klein, Anna Kostera-Pruszczyk, Hanns Lochmüller, Chiara Marini-Bettolo, Eugenio Mercuri, Robert Muni-Lofra, Laetitia Ouillade, Rosaline Quinlivan, Constantinos Papadopoulos, Hélène Prigent, Emmanuelle Salort-Campana, Valeria A Sansone, Rivka Smit, Piera Smeriglio, Simone Thiele, Ben Tichler, Peter Van den Bergh, Juan F Vazquez-Costa, John Vissing
المصدر: Neuromuscular Disorders. 33:511-522
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Medizin, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358ba1ce701ca027f0bfab2def0d78b1Test
https://doi.org/10.1016/j.nmd.2023.03.011Test -
8
المؤلفون: Lindsay N. Alfano, Meredith K. James, Gita M. Ramdharry, Linda P. Lowes, Julie Coats, José Corderí, Annette Costello, Michelle Eagle, Maha Elseed, Alessandra Gaeta, Heather Gordish-Dressman, Elin Haf Davies, Anri Human, Lone Knudsen, Mindy Leffler, Jennifer Levy, Charlotte Lilien, Maria Mancini, Anna Mayhew, Katlyn McGrattan, Robert Muni-Lofra, Allison Peck, Nathan Peck, Valeria Prada, Hara Pylarinou, Kristy Rose, Ulla Werlauff
المصدر: Neuromuscular Disorders. 33:339-348
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::885c11eba508397ca6076bf6a0065e42Test
https://doi.org/10.1016/j.nmd.2023.02.011Test -
9دورية أكاديمية
المؤلفون: Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Catherine Cassiman, Lies Prove, Lisa Vancampenhout, Marleen van den Hauwe, Annelies Van Impe, Claude Cances, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Bremond-Gignac, Maxence Rateuax, Elodie Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stephanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Jan Bollig, ù Fanni Molnár, Sibylle Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuss, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, Mareile Stoehr, Barbara Andres, Karin Smuda, Enrico Bertini, Adele D'Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo Comi, Silvia Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foà, Maria Amalia Lopopolo, Francesca Magri, Alessandra Govoni, Megi Meneri, Valeria Parente, Laura Antonaci, Maria Carmela Pera, Marika Pane, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D'Amico, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis, Giuseppe Vita, Maria Sframeli, Gian Luca Vita, Pasquale Aragona, Leandro Inferrera, Elisa Imelde Postorino, Daniela Montanini, Vincenzo Di Bella, Concetta Donato, Elisabetta Calà, Ludo Van der Pol, Jos Aalbers, Joke de Boer, Saskia Imhof, Pascale Cooijmans, Thijs Ruyten, Danny Van Der Woude, Beata Klimaszewska, Dominika Romańczak, Zuzanna Gierlak-Wójcicka, Malwina Kępa, Adam Sikorski, Marcin Sobieraj, Anna Lusakowska, Biruta Kierdaszuk, Karolina Czeczko, Bettina Henzi, Konstantin Gugleta, Akos Kusnyerik, Patricia Siems, Sabina Akos, Nora Frei, Christine Seppi, Christine Wondrusch Haschke, Michela Guglieri, Volker Straub, Richard Bell, Mahmoud Nassar, Stuart Page, Michael Patrick Clarke, Aedheen Regan, Anna Mayhew, Robert Muni Lofra, Deepak Parasuraman, Simone Bruschi, Abdul-Jabbar Ghauri, Andrew Castle, Saima Naqvi, Nicola Patt, Mariacristina Scoto, Federica Trucco, Robert H Henderson, Roopen Kukadia, Will Moore, Evelin Milev, Catherine Rye, Victoria Selby, Amy Wolfe, Basil Darras, Anna Maria Baglieri, Anne Fulton, Courtney Lucken, Elizabeth Maczek, Amy Pasternak, Claudia A Chiriboga, Steven Kane, Ma Edylin M Bautista, Eileen Frommer, Noelle Pensec, Rachel Salazar, Cara Yochai, Rafael Rodrigues-Torres, Manroop Chawla, John Day, Shannon Beres, Richard Gee, Sally Dunaway Young, Richard Finkel, Aledie Navas Nazario, Airaj Fasiuddin, Julie A Wells, Jennifer Wilson, Debbie Berry, Virgina Rizzo, Julie Duke, Migvis Monduy, Jorge Collado.
المساهمون: Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Franci, Scalco, Renata S., Wagner, Kathryn R., Muntoni, Francesco, Deconinck, Nicola, Balikova, Irina, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, Goemans, Nathalie, Cassiman, Catherine, Prove, Lie, Vancampenhout, Lisa, van den Hauwe, Marleen, Van Impe, Annelie, Cances, Claude, Soler, Vincent, Maillard De La Morandais, Lauriane, Vovan, Delphine, Cintas, Pascal, Auriol, Françoise, Mus, Marianne, Alphonsa, Gwennaelle, Bellio, Valerie, Gil Mato, Olaia, Flamein, Florence, Evrard, Cécile, Ziouche, Amina, Bouacha-Allou, Ikram, Debruyne, Philippe, Derlyn, Gille, Defoort, Sabine, Leroy, Florian, Danjoux, Loïc, Desguerre, Isabelle, Bremond-Gignac, Dominique, Rateuax, Maxence, Deladrière, Elodie, Vuillerot, Carole, Veillerot, Quentin, Sibille-Dabadi, Bénédicte, Barrière, Aurélie, Tinat, Marie, Saidi, Manel, Fontaine, Stephanie, De Montferrand, Camille, Le-Goff, Laure, Portefaix, Aurélie, Walther Louvier, Ulrike, Duval, Pierre-André, Caradec, Pascale, Touati, Souad, Zamora Herranz, Alberto, Bollig, Jan, Fanni Molnár, Ù, Vogt, Sibylle, Pechmann, Astrid, Schorling, David, Wider, Sabine, Kölbel, Heike, Schara, Ulrike, Braun, Frederik, Gangfuss, Andrea, Hagenacker, Tim, Eckstein, Anja, Dekowski, Dirk, Oeverhaus, Michael, Stoehr, Mareile, Andres, Barbara, Smuda, Karin, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Valente, Paola, Maria Bonetti, Anna, Carlesi, Adelina, Mizzoni, Irene, Pedemonte, Marina, Brolatti, Noemi, Priolo, Enrico, Rao, Giuseppe, Sposetti, Lorenza, Morando, Simone, Comi, Giacomo, Osnaghi, Silvia, Minorini, Valeria
مصطلحات موضوعية: Evrysdi, Pharmacodynamic, Risdiplam, Safety, Spinal muscular atrophy
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000929942600001; volume:12; firstpage:543; lastpage:557; numberofpages:15; journal:NEUROLOGY AND THERAPY; https://hdl.handle.net/11567/1156274Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148078301
-
10
المؤلفون: Amy Wolfe, Mariacristina Scoto, Francesco Muntoni, Robert Muni Lofra, Annemarie Rohwer, Ruth Wake, Evelin Milev, Chiara Marini-Bettolo, Lianne Abbott, Marion Main, Anna Mayhew, Giovanni Baranello
المصدر: Muscle & Nerve. 64:545-551
مصطلحات موضوعية: Vital capacity, Physiology, Population, Walking, Scoliosis, Spinal Muscular Atrophies of Childhood, Muscular Atrophy, Spinal, Upper Extremity, Cellular and Molecular Neuroscience, FEV1/FVC ratio, Physiology (medical), medicine, Humans, Respiratory function, Child, education, Retrospective Studies, education.field_of_study, business.industry, Spinal muscular atrophy, medicine.disease, SMA, medicine.anatomical_structure, Anesthesia, Upper limb, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103885582ef01339e96be5f83fcbe4c4Test
https://doi.org/10.1002/mus.27404Test