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المؤلفون: E. A. Balakireva, A. V. Slepukhina, P. V. Serikov, O. A. Puchenkova, V. M. Mikhareva, Yu. A. Bagreeva
المصدر: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 6, Pp 72-75 (2021)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Type I Spinal Muscular Atrophy, genetic structures, Anthropometric data, business.industry, hypotrophy, nutritional support, Disease, type i spinal muscular atrophy, Circumference, behavioral disciplines and activities, RJ1-570, children, werdnig–hoffmann disease, nervous system, Skin fold, Pediatrics, Perinatology and Child Health, Periumbilical region, Medicine, Clinical case, business, psychological phenomena and processes, Total protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55628939319a1ca45e955d0928e54b6Test
https://doi.org/10.21508/1027-4065-2020-65-6-72-75Test -
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المؤلفون: Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hammersmith Infant Neurological Examination, Motor milestones, Outcome measures, Spinal muscular atrophy, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Clinical Neurology, Neurological examination, Spinal Muscular Atrophies of Childhood, Sitting, Settore MED/03 - GENETICA MEDICA, Pediatrics, Article, 03 medical and health sciences, Child Development, 0302 clinical medicine, medicine, Milestone (project management), Humans, Genetics(clinical), Longitudinal Studies, Pediatrics, Perinatology, and Child Health, Retrospective Studies, Neurologic Examination, Type I Spinal Muscular Atrophy, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, medicine.disease, SMA, Natural history, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Motor Skills, Child, Preschool, Developmental Milestone, Disease Progression, Physical therapy, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7714d095011ab42d85620d4e5d2d78Test
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المؤلفون: Parveen Bhardwaj
المصدر: Journal of Medical Science And clinical Research. 7
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Type I Spinal Muscular Atrophy, Werdnig-Hoffman disease, business.industry, Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::423baf340ea53488255c50ae37b9823dTest
https://doi.org/10.18535/jmscr/v7i6.14Test -
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المؤلفون: Michela Catteruccia, Giuseppe Vita, Eugenio Mercuri, Chiara Bravetti, Beatrice Berti, Sonia Messina, Paola Tacchetti, Adele D'Amico, Valeria A. Sansone, Marco Piastra, Marina Pedemonte, Enrico Bertini, Claudio Bruno, Marika Pane, Roberto De Sanctis, Francesca Salmin, Giorgia Brigati, Maria Sframeli, Simona Lucibello, Giorgia Coratti, Emilio Albamonte, Francesco Danilo Tiziano, Orazio Genovese
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Oligonucleotides, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Humans, In patient, Child, spinal muscular atrophy, Type I Spinal Muscular Atrophy, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Spinal muscular atrophy, nusinersen, CHOP INTEND, real world, Survival of Motor Neuron 2 Protein, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Cohort, Nusinersen, Female, Neurology (clinical), business, Real world data, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fe5a00f540abc0e7a2bf551663d35eTest
http://hdl.handle.net/11570/3142754Test -
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المؤلفون: F.G. Ogrinc, M. Droege, A. Novack, D.E. Feltner, O. Dabbous, M. Menier, R. Arjunji, F. Khan, B. Maru, Douglas M. Sproule
المصدر: Value in Health Regional Issues. 19:S3
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Type I Spinal Muscular Atrophy, business.industry, Health Policy, Economics, Econometrics and Finance (miscellaneous), Event free survival, Time to treatment, Natural history, Milestone (project management), Medicine, Nusinersen, business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9c863533b387fbc34f5715b54e69df52Test
https://doi.org/10.1016/j.vhri.2019.08.013Test -
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المصدر: ASSETS
مصطلحات موضوعية: 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Type I Spinal Muscular Atrophy, Physical medicine and rehabilitation, business.industry, Medicine, 030212 general & internal medicine, Spinal muscular atrophy, 030204 cardiovascular system & hematology, business, SMA, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::83ef4f53e30276aebc6887aaea70cddaTest
https://doi.org/10.1145/3132525.3134772Test -
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المؤلفون: M. Menier, O. Dabbous, Marcus Droege, R. Arjunji, D.M. Sproule, D.E. Feltner, F. Khan, B. Maru, F.G. Ogrinc
المصدر: Value in Health. 22:S271
مصطلحات موضوعية: Natural history, medicine.medical_specialty, Physical medicine and rehabilitation, Type I Spinal Muscular Atrophy, business.industry, Health Policy, Event free survival, Public Health, Environmental and Occupational Health, Milestone (project management), Psychological intervention, Medicine, Nusinersen, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5ab3ad59f34cd28e877643aa89e27714Test
https://doi.org/10.1016/j.jval.2019.04.1282Test -
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المؤلفون: R. Dean, M. Menier, Marcus Droege, D.E. Feltner, D.M. Sproule, O. Dabbous, B. Miller, R. Arjunji, F. Khan, I. Jensen
المصدر: Value in Health. 22:S48
مصطلحات موضوعية: Type I Spinal Muscular Atrophy, business.industry, Health Policy, Anesthesia, Public Health, Environmental and Occupational Health, Medicine, Nusinersen, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d686c4320c67b2815c82f20ba28264b5Test
https://doi.org/10.1016/j.jval.2019.04.093Test -
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المؤلفون: Toshinori Minato, Sakae Shima, Chieko Hisamatsu, Kosaku Maeda, Michiko Kaji, Kazuhiro Taguchi, Shinsaku Yoshida
المصدر: Japanese Journal of Pediatric Pulmonology. 19:154-163
مصطلحات موضوعية: medicine.medical_specialty, Type I Spinal Muscular Atrophy, Respiratory failure, business.industry, medicine, SMA, business, Mucus, Surgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a770550f6b8d766993653d5d91cfe6d3Test
https://doi.org/10.5701/jjpp.19.154Test -
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المؤلفون: Y. Montejo, N. Garofalo, R. Alvarez, R. Guerra, M. A. Alvarez, Orla Hardiman, T. Zaldivar, J. Vargas, A. M. Acevedo
المصدر: Neurology. 65:636-638
مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Pediatrics, DNA Mutational Analysis, Population, Black People, Nerve Tissue Proteins, Spinal Muscular Atrophies of Childhood, White People, Cohort Studies, Central nervous system disease, Degenerative disease, Prevalence, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Sex Distribution, Cyclic AMP Response Element-Binding Protein, Muscle, Skeletal, education, Spinal muscular atrophy type I, education.field_of_study, Type I Spinal Muscular Atrophy, business.industry, Incidence, Incidence (epidemiology), Infant, Newborn, Cuba, Genetic Variation, Infant, RNA-Binding Proteins, SMN Complex Proteins, Exons, medicine.disease, SMA, Surgery, Mutation, Chromosomes, Human, Pair 5, Female, Neurology (clinical), business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a03fe5af4d1315f82aa7274497d7864Test
https://doi.org/10.1212/01.wnl.0000172860.41953.12Test