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1
المؤلفون: Stephen J. Kolb, Jacqueline Montes, Marika Pane, Giorgia Coratti, Simona Lucibello, Marco Perulli, Eugenio Mercuri, Roberto De Sanctis, Richard S. Finkel, Darryl C. De Vivo, Basil T. Darras, Maria Carmela Pera
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Natural history, lcsh:Medicine, Review, Neonatal onset, Disease, Spinal Muscular Atrophies of Childhood, CHOP, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, lcsh:R, Infant, Newborn, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Clinical trial, Settore MED/26 - NEUROLOGIA, Phenotype, 030104 developmental biology, Italy, Cohort, business, CHOP INTEND, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db75db350724f0c00b7760581e5165a7Test
http://link.springer.com/article/10.1186/s13023-020-01356-1Test -
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المؤلفون: Sonia Messina, Jacqueline Montes, Matthew Civitello, Marika Pane, Anna Lia Frongia, Francesco Muntoni, Giorgia Coratti, Maria Carmela Pera, Eugenio Mercuri, Amy Pasternak, Anna Mayhew, Laura Antonaci, Richard S. Finkel
المصدر: Neuromuscular Disorders. 29:940-950
مصطلحات موضوعية: Parents, Quality of life, 0301 basic medicine, Gerontology, Activities of daily living, Care burden, Personalized medicine, Care burden, Muscular Atrophy, Spinal, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Cost of Illness, Age groups, Activities of Daily Living, medicine, Humans, Health related quality of life, Precision Medicine, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Activity of daily living, Caregiver burden, Spinal muscular atrophy, SMA, medicine.disease, Personalized medicine, Clinical trial, Clinical Practice, 030104 developmental biology, Caregivers, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ed37445e9bc1b6b7f7e0b74cea935cTest
https://doi.org/10.1016/j.nmd.2019.10.001Test -
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المؤلفون: Katie Alexander, Zarazuela Zolkipli-Cunningham, Jacqueline Montes, Eugenio Mercuri, John W. Day, Kathie M. Bishop, Chris Yun, Allan M. Glanzman, Richard Gee, Elena S. Mazzone, Anna Mayhew, Richard S. Finkel, Kristy Rose, Darryl C. De Vivo, Leslie Nelson, Gihan Tennekoon, Basil T. Darras, Sally Dunaway Young, Ron Baldwin
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: 0301 basic medicine, Research Report, medicine.medical_specialty, Intraclass correlation, Oligonucleotides, multicenter, Outcome assessment, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, outcome measures, 0302 clinical medicine, medicine, Humans, SMA, outcome assessment, spinal muscular atrophy, Observer Variation, Clinical Trials as Topic, business.industry, Teaching, Retraining, Outcome measures, nusinersen, Infant, Reproducibility of Results, Oligonucleotides, Antisense, studies, Clinical trial, Physical Therapists, 030104 developmental biology, Initial training, Neurology, reliability of results, Physical therapy, Nusinersen, Neurology (clinical), Clinical Competence, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c72aba5018d30ac41ca0ae7ffa7ac23Test
http://europepmc.org/articles/PMC6030668Test -
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المؤلفون: Jacqueline Montes, Richard S. Finkel, Kathie M. Bishop
المصدر: Muscle & Nerve. 57:142-146
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pediatrics, Physiology, Developmental Disabilities, Movement, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Sensitivity and Specificity, Clinical study, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Milestone (project management), medicine, Humans, Neurologic Examination, Observer Variation, business.industry, Outcome measures, Infant, Reproducibility of Results, Neurological exam, Spinal muscular atrophy, Reference Standards, SMA, medicine.disease, Clinical trial, 030104 developmental biology, Child, Preschool, Disease Progression, Physical therapy, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549d7805f2c652a848ce6d85668c8cc3Test
https://doi.org/10.1002/mus.25705Test -
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المؤلفون: C. Frank Bennett, John W. Day, Kathie M. Bishop, Eugene Schneider, Frank Rigo, Daniel A. Norris, Richard S. Finkel, Jiri Vajsar, Gene Hung, Jacqueline Montes, Mason Yamashita, Shuting Xia, Darryl C. De Vivo, Claudia A. Chiriboga
المصدر: The Lancet. 388:3017-3026
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, General Medicine, Spinal muscular atrophy, SMN1, Motor neuron, medicine.disease, Interim analysis, Surgery, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Tolerability, Internal medicine, medicine, Nusinersen, Adverse effect, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::252b48c9096ea07b649a3809b33741ffTest
https://doi.org/10.1016/s0140-6736Test(16)31408-8 -
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المؤلفون: Sally Dunaway Young, Jacqueline Montes, Bernadette Podwika, Darryl C. De Vivo, Samantha S. Kramer, Ashwini Rao
المصدر: Journal of neuromuscular diseases. 6(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Pilot Projects, Muscular Atrophy, Spinal, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Quality of life, medicine, Humans, Child, Fatigue, business.industry, Ambulatory Status, Cognition, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Clinical trial, 030104 developmental biology, Neurology, Caregivers, Child, Preschool, Ambulatory, Physical therapy, Quality of Life, Female, Perception, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aaf60b082400dc616f3b3a446e2bb1aTest
https://pubmed.ncbi.nlm.nih.gov/30562906Test -
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المؤلفون: Carol Ewing Garber, Darryl C. De Vivo, Jacqueline Montes, Douglas M. Sproule, Megan Montgomery, Samantha S. Kramer, Brendan Carr, Sally Dunaway, Rosangel Cruz, Nancy E. Strauss, Shirit Kamil-Rosenberg
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: Research Report, medicine.medical_specialty, exercise, business.industry, VO2 max, Spinal muscular atrophy, Exercise capacity, medicine.disease, SMA, aerobic, Clinical trial, Physical medicine and rehabilitation, Neurology, Quality of life, six minute walk test, Ambulatory, Physical therapy, Medicine, Neurology (clinical), Single blind, strength, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04608f17c6778d0af1af2446059e91bTest
https://doi.org/10.3233/jnd-150101Test -
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المؤلفون: Thomas Sejersen, Brian D. Snyder, Janbernd Kirschner, Francesco Muntoni, Eugenio Mercuri, Jacqueline Montes, Anita K. Simonds, Oscar H. Meyer, Michael G. Vitale, Enrico Bertini, Simon Woods, Ying Qian, Marion Main, Thomas O. Crawford, Rebecca Hurst Davis, Susana Quijano-Roy, Elena S. Mazzone, Susan T. Iannaccone, Robert J. Graham, Richard S. Finkel, Brunhilde Wirth, Mary K. Schroth
المصدر: Neuromuscular disorders : NMD. 28(3)
مصطلحات موضوعية: Occupational therapy, medicine.medical_specialty, Disease, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Acute care, medicine, Humans, 030212 general & internal medicine, Intensive care medicine, Lung, Genetics (clinical), Physical Therapy Modalities, spinal muscular atrophy, business.industry, Disease Management, Spinal muscular atrophy, medicine.disease, Clinical trial, Natural history, Neurology, Pediatrics, Perinatology and Child Health, Nusinersen, Immunization, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8acd9ca8ed47ca6a8a0905d568c527b6Test
https://pubmed.ncbi.nlm.nih.gov/29305137Test -
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مصطلحات موضوعية: medicine.medical_specialty, business.industry, Outcome measures, Spinal muscular atrophy, medicine.disease, Pulmonary function testing, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, 030228 respiratory system, medicine, Physical therapy, Robustness (economics), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c4de51d72c4f07046d9d20684980971cTest
https://doi.org/10.1016/b978-0-12-803685-3.00023-9Test -
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المؤلفون: Maria Carmela Pera, Amy Pasternak, John W. Day, Marion Main, Sally Dunaway, Lavinia Fanelli, Basil T. Darras, Marika Pane, Robert Muni Lofra, Richard S. Finkel, Eugenio Mercuri, Maria Sframeli, Elena S. Mazzone, Darryl C. De Vivo, Anna Mayhew, Giorgia Coratti, Matthew Civitello, Rachel Salazar, Francesco Muntoni, Roberto De Sanctis, Mariacristina Scoto, Jacqueline Montes, Sonia Messina, Danielle Ramsey, Leonardo Lapenta, Tina Duong, Nicola Forcina, Simona Lucibello, Laura Antonaci
المصدر: BMC Neurology
مصطلحات موضوعية: Quality of life, Adult, Male, 0301 basic medicine, medicine.medical_specialty, Activities of daily living, Carers, Adolescent, Patients, Clinical Neurology, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, Clinical trials, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Activities of Daily Living, Outcome Assessment, Health Care, medicine, Content validity, Humans, Clinical significance, Child, business.industry, General Medicine, Spinal muscular atrophy, Focus Groups, medicine.disease, SMA, Focus group, Clinical trial, 030104 developmental biology, Caregivers, Female, Outcome Assessment (Health Care), Neurology (clinical), Scale (social sciences), Physical therapy, business, 030217 neurology & neurosurgery, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96fffe7d8a657e5001cdfa7d35ebe270Test
http://hdl.handle.net/10807/100118Test