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المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini
المصدر: Neurology
article-version (Version of Record) 3مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test -
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المؤلفون: Antony Amato, Michael P. McDermott, John T. Kissel, Patty C. Smith, Perry B. Shieh, Alan Pestronk, Jeffrey W. Ralph, Hiroshi Mitsumoto, Michael G. Hanna, Valeria A. Sansone, Shree Pandya, Emma Ciafaloni, Giovanni Meola, Brian A. Crum, J. Burge, Richard J. Barohn, Robert C. Griggs, Barbara E. Herr, Jaya Trivedi, Robin Conwit, Rabi Tawil, Steve C. Cannon
المصدر: Neurology. 86(15)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Dichlorphenamide, Gene mutation, Placebo, Hop (networking), law.invention, Paralyses, Familial Periodic, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, Double-Blind Method, law, Internal medicine, medicine, Humans, Adverse effect, Carbonic Anhydrase Inhibitors, business.industry, Periodic paralysis, Middle Aged, medicine.disease, Confidence interval, 030104 developmental biology, Physical therapy, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22881c497a843204f3b774341811859bTest
https://pubmed.ncbi.nlm.nih.gov/26865522Test -
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المؤلفون: L. Lin, Emma Ciafaloni, Lynn Liu, Xiaoyan Lin, Charles A. Thornton, Valeria A. Sansone, Michael L. Perlis, Emmanuel Mignot, Wilfred R. Pigeon, James E. Hilbert
المصدر: Neurology. 70:226-230
مصطلحات موضوعية: Adult, Genetic Markers, Male, Receptors, Neuropeptide, Sleep Wake Disorders, musculoskeletal diseases, Multiple Sleep Latency Test, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Polysomnography, DNA Mutational Analysis, Radioimmunoassay, Excessive daytime sleepiness, Comorbidity, Myotonic dystrophy, Receptors, G-Protein-Coupled, Cohort Studies, Orexin Receptors, Internal medicine, medicine, Humans, Myotonic Dystrophy, Genetic Predisposition to Disease, Prospective Studies, Aged, Temporal cortex, Orexins, medicine.diagnostic_test, business.industry, Neuropeptides, Intracellular Signaling Peptides and Proteins, Middle Aged, medicine.disease, Myotonia, Orexin receptor, Alternative Splicing, Endocrinology, Mutation, Female, Neurology (clinical), medicine.symptom, business, Narcolepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abf01bd2a9ec27982bdeb068d1001afTest
https://doi.org/10.1212/01.wnl.0000296827.20167.98Test