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1
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: 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: 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: Herta Zellner, Melanie A. Manning, Holger Prokisch, Natalia Gomez-Ospina, Georg F. Hoffmann, Johannes A. Mayr, Mirjana Gusic, Lucia Laugwitz, Susanne Morlot, Claudia Krahn-Peper, Thomas Meitinger, Andreas Wroblewski, Michaela Röblitz, Elisabeth Graf, Riccardo Berutti, Eva Bültmann, Tim M. Strom, Dorota Piekutowska-Abramczuk, Penelope E. Bonnen, René G. Feichtinger, Edda Haberlandt, Christine Makowski, Manting Xu, Ulrich A. Schatz, Anibh M. Das, Steffen Syrbe, Katharina Danhauser, Daniela Karall, Anna Kostera-Pruszczyk, Hans Hartmann, Tobias B. Haack, Rafał Płoski, Fang Fang, Maciej Pronicki, Bader Alhaddad, Reka Kovacs-Nagy
المصدر: The American Journal of Human Genetics. 103:817-825
مصطلحات موضوعية: Male, 0301 basic medicine, Ataxia, Adolescent, Cerebellar Ataxia, Glycoside Hydrolases, Developmental Disabilities, Biology, Nervous System Malformations, 03 medical and health sciences, ADP-Ribosylation, 0302 clinical medicine, PARP1, Report, Genetics, medicine, Humans, Exome, Viability assay, Allele, Child, Alleles, Genetics (clinical), Exome sequencing, Adenosine Diphosphate Ribose, Messenger RNA, Neurodegeneration, Infant, Neurodegenerative Diseases, medicine.disease, 030104 developmental biology, Child, Preschool, Mutation, Cancer research, Female, NAD+ kinase, medicine.symptom, Protein Processing, Post-Translational, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69de748641d7361a0dc57201bc80a18cTest
https://doi.org/10.1016/j.ajhg.2018.10.005Test -
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المؤلفون: Eugenio Mercuri, C. McDonald, Shannon Marraffino, Sarah P. Sherlock, Jean K. Mah, C. Tian, Russell J. Butterfield, Vivek S. Purohit, Kathryn R. Wagner, Michela Guglieri, Hoda Abdel-Hamid, Enrico Bertini, J. Statland, Peter I. Karachunski, Michael Binks, Craig Campbell, Alesia Sadosky, Lawrence Charnas, Brenda L. Wong, Jeffrey P. Palmer, Yasuhiro Takeshima, Chiara Fiorillo, Anna Kostera-Pruszczyk, Francesco Muntoni
المصدر: Neuromuscular Disorders. 31:167-168
مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, Neurology, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Open label, medicine.disease, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8143a42ed208dcffabb620ec8bc9d7adTest
https://doi.org/10.1016/j.nmd.2021.01.001Test -
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المؤلفون: Anna Lusakowska, Anna Kostera-Pruszczyk, K. Janiszewska, P. Grochowski, P. Dziala, Anna Kamińska
المصدر: Neuromuscular Disorders. 29:S195-S196
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, SMA, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae150689a265af6e97769312cc896a3aTest
https://doi.org/10.1016/j.nmd.2019.06.553Test -
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المصدر: Neuromuscular Disorders. 25:661-666
مصطلحات موضوعية: Male, Physical examination, Ubiquitin-Activating Enzymes, Fractures, Bone, Tongue, medicine, Humans, Genetics (clinical), Arthrogryposis, medicine.diagnostic_test, business.industry, Infant, Newborn, Facial weakness, Muscle weakness, Genetic Diseases, X-Linked, UBA1, Anatomy, Spinal muscular atrophy, medicine.disease, Hypotonia, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fed047523e52d62ba61f9809885cc8eTest
https://doi.org/10.1016/j.nmd.2015.05.001Test -
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المؤلفون: Maria Jolanta Redowicz, Jakub Piotr Fichna, Anna Kostera-Pruszczyk, Anna Macias, Anna Kamińska, Cezary Zekanowski, Malgorzata Topolewska
المصدر: Neuromuscular Disorders. 29:S181
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, medicine, Coding region, Neurology (clinical), Anatomy, Biology, medicine.disease, Genetics (clinical), Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4bed3c179e6127f160d23be82d574826Test
https://doi.org/10.1016/j.nmd.2019.06.503Test -
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المؤلفون: Barbara Ryniewicz, Anna Kostera-Pruszczyk, A. Fraczek, A. Sulek, E. Obersztyn, N. Braun-Walicka, M. Bednarska-Makaruk, Anna Potulska-Chromik
المصدر: Neuromuscular Disorders. 29:S198
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0479d47955b969f71ed9508e8f348ceaTest
https://doi.org/10.1016/j.nmd.2019.06.562Test -
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المؤلفون: Anna Kostera-Pruszczyk, Damian Gawel, Barbara Ryniewicz, Malgorzata Gawel, Marta Lipowska, Maria Jędrzejowska, Anna Lusakowska, Anna Kamińska
المصدر: Neuromuscular Disorders. 25:216-221
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Motor dysfunction, Adolescent, Action Potentials, Severity of Illness Index, Muscular Atrophy, Spinal, Young Adult, Physical medicine and rehabilitation, medicine, Humans, Motor unit number estimation, Child, Muscle, Skeletal, Genetics (clinical), Motor Neurons, Denervation, Electromyography, business.industry, Signal Processing, Computer-Assisted, Spinal muscular atrophy, Hand, medicine.disease, SMA, Motor unit, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Lower motor neuron degeneration, Female, Neurology (clinical), Motor action, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d8bb5a88e188671aeea0fbe7da668c0Test
https://doi.org/10.1016/j.nmd.2014.11.012Test