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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 -
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المؤلفون: Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Ingele Casteels, Liesbeth De Waele, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell
المصدر: LANCET NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Adult, Risdiplam, spinal muscular atrophy, Adolescent, Spinal Muscular Atrophies of Childhood, Settore MED/26 - NEUROLOGIA, Young Adult, Pyrimidines, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Double-Blind Method, Child, Preschool, Humans, Neurology (clinical), Child, Preschool, Azo Compounds, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917024073c62a8e3c3c8eedaa6f463bbTest
https://doi.org/10.1016/s1474-4422Test(21)00367-7 -
3
المصدر: International Journal of Pediatrics and Adolescent Medicine, Vol 8, Iss 2, Pp 121-124 (2021)
International Journal of Pediatrics & Adolescent Medicineمصطلحات موضوعية: BP, blood pressure, Tachycardia, Pediatrics, medicine.medical_specialty, 050402 sociology, Neuropathic pain, ABPM, ambulatory blood pressure monitoring, and AN, autonomic neuropathy, Acute autonomic neuropathy, RJ1-570, BP - Blood pressure, 03 medical and health sciences, 0302 clinical medicine, 0504 sociology, 030225 pediatrics, medicine, Burning Pain, Eeg electroencephalography, HR, heart rate, business.industry, CT, computer tomography, 05 social sciences, AAN, acute autonomic neuropathy, ACEI, angiotensin converting enzyme inhibitor, Blood pressure, Hypertension, Pediatrics, Perinatology and Child Health, Original Article, ECG, electrocardiogram, medicine.symptom, Autonomic neuropathy, business, MRI, magnetic resonance imaging, EEG, electroencephalography, Pediatric cardiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0656c7ff2bf9bf5c5799db49df0481b5Test
https://doi.org/10.1016/j.ijpam.2020.06.006Test -
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المؤلفون: Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
المصدر: The American Journal of Human Genetics
Am J Hum Genetمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Muscular Dystrophies, Myoblasts, Mice, 0302 clinical medicine, Drosophila Proteins, Muscular dystrophy, Child, Genetics (clinical), Genetics, Receptors, Notch, Myogenesis, Muscles, Middle Aged, Pedigree, Drosophila melanogaster, Phenotype, medicine.anatomical_structure, Glucosyltransferases, Child, Preschool, Female, Jagged-2 Protein, medicine.symptom, Signal Transduction, Adult, JAG2, JAG1, Adolescent, Notch signaling pathway, Biology, Article, Cell Line, Frameshift mutation, Young Adult, 03 medical and health sciences, Exome Sequencing, medicine, Animals, Humans, Amino Acid Sequence, Correction, Membrane Proteins, Muscle weakness, Skeletal muscle, medicine.disease, Human genetics, 030104 developmental biology, Haplotypes, Jagged-1 Protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de5cf77949f159f13e3db961570ab30bTest
https://doi.org/10.1016/j.ajhg.2021.03.020Test -
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المؤلفون: Priya S. Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Paula R. Clemens, John W. Day, Sergey Illarioshkin, Mark E. Roberts, Shahram Attarian, Gerson Carvalho, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
المصدر: Molecular Genetics and Metabolism. 138:107185
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd5a5f4858cc8cbc9651e597cf8db827Test
https://doi.org/10.1016/j.ymgme.2022.107185Test -
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المؤلفون: Biruta Kierdaszuk, Olga Zdończyk, Mateusz Jermakow, Piotr Bienias, Agnieszka Miroszewska, Anna Kostera-Pruszczyk, Magdalena Kaliszewska, Anna Maria Gawałkiewicz, Marta Jaworska, Piotr Pruszczyk
المصدر: Journal of Electrocardiology. 65:136-142
مصطلحات موضوعية: Adult, medicine.medical_specialty, Mitochondrial Diseases, Mitochondrial disease, 030204 cardiovascular system & hematology, QT interval, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Repolarization, In patient, cardiovascular diseases, 030212 general & internal medicine, Aged, medicine.diagnostic_test, business.industry, Non invasive, Arrhythmias, Cardiac, Middle Aged, Intraventricular conduction, medicine.disease, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business, Atrioventricular block
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa372fad812a396615978b537055356Test
https://doi.org/10.1016/j.jelectrocard.2021.01.021Test -
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المؤلفون: Andreas Ziegler, Nathalie Goemans, Janbernd Kirschner, Eduardo F. Tizzano, Laurent Servais, Eugenio Mercuri, Thomas Sejersen, Francesco Muntoni, N. Butoianu, Anna Kostera-Pruszczyk, Jana Haberlová, W. Ludo van der Pol, Susana Quijano-Roy
المصدر: European Journal of Paediatric Neurology
مصطلحات موضوعية: medicine.medical_specialty, Consensus, Statement (logic), Recombinant Fusion Proteins, Zolgensma, Context (language use), Disease, SMN1, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Gene therapy, 0302 clinical medicine, Nusinersen, 030225 pediatrics, Onasemnogene abeparvovec, Humans, Medicine, Intensive care medicine, Biological Products, business.industry, Patient Selection, Gene replacement therapy, Infant, Genetic Therapy, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, SMN2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07fa53855c7e4c43428df03e9da83368Test
https://doi.org/10.1016/j.ejpn.2020.07.001Test -
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المؤلفون: Eugenio Mercuri, Jean K. Mah, C. Tian, Hoda Abdel-Hamid, Craig M. McDonald, Craig Campbell, J. Statland, Michael Binks, Alesia Sadosky, Lawrence Charnas, Jeffrey P. Palmer, Michela Guglieri, Brenda L. Wong, Francesco Muntoni, Yasuhiro Takeshima, Kathryn R. Wagner, Sarah P. Sherlock, Shannon Marraffino, Anna Kostera-Pruszczyk, Enrico Bertini, Peter I. Karachunski, Russell J. Butterfield, Vivek S. Purohit, Chiara Fiorillo
المصدر: Paediatrics Publications
مصطلحات موضوعية: Male, Duchenne muscular dystrophy, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Antibodies, Monoclonal, Humanized, 03 medical and health sciences, 0302 clinical medicine, Outcome Assessment, Health Care, medicine, Humans, In patient, Treatment Failure, Child, Genetics (clinical), business.industry, Myostatin, medicine.disease, Muscular Dystrophy, Duchenne, myostatin inhibitor, 030104 developmental biology, Neurology, 4-stair climb, Pediatrics, Perinatology and Child Health, Ambulatory, Exercise Test, Neurology (clinical), Open label, domagrozumab, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b3cbadea127d4ce51f63126e99cb373Test
https://doi.org/10.1016/j.nmd.2020.05.002Test -
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المؤلفون: Priya Kishnani, Jordi Díaz-Manera, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin-Hsiu Chien, John W. Day, Sergey Illarioshkin, Mark Roberts, Shahram Attarian, Gerson Carvalho, Young-Chul Choi, Sevim Erdem-Özdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser
المصدر: Molecular Genetics and Metabolism. 135:S66-S67
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ca8754c5e69f0b9ffc64a95181c90faTest
https://doi.org/10.1016/j.ymgme.2021.11.168Test -
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المؤلفون: Anna Kostera-Pruszczyk, Malgorzata Gawel, Ewa Zalewska, Anna Lusakowska, Anna Kamińska, Elzbieta Szmidt-Salkowska, Marta Lipowska
المصدر: Journal of Electromyography and Kinesiology. 46:35-40
مصطلحات موضوعية: Male, medicine.medical_specialty, Weakness, Motor dysfunction, Needle emg, Biophysics, Neuroscience (miscellaneous), Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Physical medicine and rehabilitation, Post-polio syndrome, Humans, Medicine, Muscle, Skeletal, Aged, Motor Neurons, Electromyography, business.industry, Motor unit number, 030229 sport sciences, Middle Aged, medicine.disease, Motor unit, Needles, Biomarker (medicine), Female, Postpoliomyelitis Syndrome, Neurology (clinical), medicine.symptom, business, Biomarkers, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd6fbb82cf4b80096e16b47057b8cc9Test
https://doi.org/10.1016/j.jelekin.2019.03.006Test