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المؤلفون: Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, Male, Weakness, Pediatrics, medicine.medical_specialty, Time Factors, Oligonucleotides, Presymptomatic, Neurofilament, Motor Activity, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, Medicine, Humans, Adverse effect, Genetics (clinical), business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, SMA, medicine.disease, Muscle atrophy, Clinical trial, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6Test
http://europepmc.org/articles/PMC7127286Test -
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المؤلفون: Gaia Gragnano, Chad Heatwole, Marino Iatomasi, Andrea Lizio, Lucia Greco, A. Zanolini, Marco Gualandris, Valeria A. Sansone
المصدر: Neuromuscular Disorders. 27:1047-1053
مصطلحات موضوعية: Male, medicine.medical_specialty, Intraclass correlation, Culture, Concurrent validity, Severity of Illness Index, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Cost of Illness, Quality of life, Humans, Myotonic Dystrophy, Medicine, Respiratory function, Patient Reported Outcome Measures, 030212 general & internal medicine, Genetics (clinical), Disease burden, business.industry, Reproducibility of Results, Middle Aged, Translating, medicine.disease, Clinical trial, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Quality of Life, Physical therapy, Female, Self Report, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c17458fdde580e8b382b8b65f3a9c962Test
https://doi.org/10.1016/j.nmd.2017.07.004Test -
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المؤلفون: Cynthia Gagnon, Valeria A. Sansone
المصدر: Neuromuscular disorders, 25(5), 432-42. PERGAMON-ELSEVIER SCIENCE LTD
مصطلحات موضوعية: Chronic respiratory insufficiency, Male, medicine.medical_specialty, Pediatrics, business.industry, MEDLINE, Outcome and Process Assessment, Respiratory Insufficiency/complications, Health Care, Outcome and Process Assessment, Health Care, Chronic disease, Neurology, Family medicine, Pediatrics, Perinatology and Child Health, Health care, Chronic Disease, medicine, Myotonic Dystrophy/complications, Humans, Female, Neurology (clinical), business, Genetics (clinical), Netherlands
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920f4344e6e52fb592e47e90688e09e1Test
https://doi.org/10.1016/j.nmd.2015.01.011Test -
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المصدر: Neuromuscular Disorders. 24:365-367
مصطلحات موضوعية: musculoskeletal diseases, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Myotonia Congenita, endocrine system diseases, Hormone Replacement Therapy, DNA Mutational Analysis, Muscle disorder, Asymptomatic, Diagnosis, Differential, Young Adult, Hypothyroidism, Channelopathy, Chloride Channels, Internal medicine, medicine, Humans, Genetics (clinical), CLCN1, biology, Myotonia congenita, business.industry, Skeletal muscle, medicine.disease, Myotonia, body regions, Thyroxine, Endocrinology, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), medicine.symptom, Thyroid function, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63da7ef162127cb9a4549dc1d44ae08eTest
https://doi.org/10.1016/j.nmd.2014.01.006Test -
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المؤلفون: Richard T. Moxley, Robert C. Griggs, Valeria A. Sansone
المصدر: Neuromuscular Disorders. 10:165-172
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Asymptomatic, Myotonic dystrophy, Proximal myotonic myopathy, Diagnosis, Differential, Hypothyroidism, Cataracts, Internal medicine, Hypothyroid myopathy, medicine, Humans, Euthyroid, Genetics (clinical), Aged, business.industry, Myotonia, medicine.disease, Pedigree, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Proximal weakness, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc32bbcbaeb19fdb14444baf0a336b59Test
https://doi.org/10.1016/s0960-8966Test(99)00097-8 -
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المصدر: Neuromuscular Disorders. 7:S53-S56
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Proximal muscle weakness, Biopsy, Muscular Dystrophies, Oculopharyngeal muscular dystrophy, Sarcolemma, Ptosis, medicine, Blepharoptosis, Humans, Muscle, Skeletal, Myopathy, Genetics (clinical), Aged, Family Health, Inclusion Bodies, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Middle Aged, medicine.disease, Dysphagia, Pedigree, Microscopy, Electron, Italy, Neurology, Oculomotor Muscles, Pediatrics, Perinatology and Child Health, Pharyngeal Muscles, Female, Neurology (clinical), medicine.symptom, Bilateral ptosis, Deglutition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d26cad78adfbe68291219040d40c428Test
https://doi.org/10.1016/s0960-8966Test(97)00083-7