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1
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: 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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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 -
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المؤلفون: Anna Kostera-Pruszczyk, M. Milewski, Irena Hausmanowa-Petrusewicz, M. Jurek, Maria Jędrzejowska, Janusz Zimowski, D. Sielska
المصدر: Neuromuscular Disorders. 17:778-779
مصطلحات موضوعية: Physics, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Anatomy, SMA, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::61166cc61f4a3bae7a7202b2859d0d56Test
https://doi.org/10.1016/j.nmd.2007.06.064Test -
5
المؤلفون: Barbara Ryniewicz, Irena Hausmanowa-Petrusewicz, Janusz Zimowski, Monika Gos, Anna Kostera-Pruszczyk, Maria Jędrzejowska
المصدر: Neuromuscular Disorders. 22:871
مصطلحات موضوعية: Genetics, Mutation, Point mutation, Spinal muscular atrophy, SMN1, Biology, medicine.disease_cause, SMA, medicine.disease, Molecular biology, Exon, Neurology, Pediatrics, Perinatology and Child Health, medicine, Missense mutation, Neurology (clinical), Multiplex ligation-dependent probe amplification, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8eacedbcdce2858c4742f3c106b7710aTest
https://doi.org/10.1016/j.nmd.2012.06.226Test -
6
المصدر: European Journal of Paediatric Neurology. 12:S53
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), General Medicine, business, SMA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f27bd63f398ee7b75318f6c0ac134953Test
https://doi.org/10.1016/s1090-3798Test(08)70177-6