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1دورية أكاديمية
المؤلفون: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Outcome measures, Clinical trials, Motor function, Neurodevelopmental disorders, Natural history, Gross motor function measure (GMFM), Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung, Jacqueline Montes
مصطلحات موضوعية: Medicine, Sociology, Science Policy, Mental Health, Biological Sciences not elsewhere classified, Outcome measures, Clinical trials, Motor function, Neurodevelopmental disorders, Natural history, Gross motor function measure (GMFM), PPP2R5D
الإتاحة: https://doi.org/10.6084/m9.figshare.25183221.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Validation_of_a_modified_version_of_the_gross_motor_function_measure_in_PPPR5D_related_neurodevelopmental_disorder/25183221Test -
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المؤلفون: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test -
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المؤلفون: Mariacristina Scoto, Irene Mizzoni, John W. Day, Annemarie Rohwer, Eugenio Mercuri, Darryl C. De Vivo, Laura Antonaci, Richard S. Finkel, Tina Duong, Gian Luca Vita, Roberto De Sanctis, Jacqueline Montes, Evelin Milev, Adele DʼAmico, Giovanni Baranello, Giorgia Coratti, Marika Pane, Allan M. Glanzman, Emilio Albamonte, Elena S. Mazzone, Basil T. Darras, Enrico Bertini, Maria Sframeli, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Anna Lia Frongia, Francesca Bovis, Sonia Messina, Francesco Muntoni, Claudio Bruno, Valeria A. Sansone, Matthew Civitello
مصطلحات موضوعية: medicine.medical_specialty, Physiology, Concordance, Oligonucleotides, Spinal Muscular Atrophies of Childhood, neuromuscular disorders, Motor function, Muscular Atrophy, Spinal, Upper Extremity, Cellular and Molecular Neuroscience, outcome measures, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physiology (medical), medicine, Gross motor function, Humans, In patient, spinal muscular atrophy, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Spinal muscular atrophy, medicine.disease, SMA, motor, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Cross-Sectional Studies, Upper limb, disease severity, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dd54e69537baa86748b370c0fa960cTest
http://hdl.handle.net/11567/1072553Test -
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المؤلفون: Marika Pane, Eugenio Mercuri, Marina Pedemonte, Darryl C. De Vivo, Richard S. Finkel, Sonia Messina, Maria Carmela Pera, Simona Lucibello, Amy Pasternak, Sally Dunaway Young, Nathalie Goemans, Giorgia Coratti, Jacqueline Montes, Francesco Muntoni, Enrico Bertini, Andres Nascimiento Osorio, Allan M. Glanzman, Anna Mayhew, Mariacristina Scoto, Valeria Sansone
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Hammersmith functional motor scale expanded, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Baseline values, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Age Factors, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, Neuromuscular disorders, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Diabetes Mellitus, Type 2, Relative risk, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe3f81c5c04817c81c6e3c85c3aaa64Test
http://hdl.handle.net/11570/3189921Test -
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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: 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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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: Richard Gee, John W. Day, Lavinia Fanelli, Basil T. Darras, Eugenio Mercuri, Sally Dunaway Young, Gihan Tennekoon, Sonia Messina, Giorgia Coratti, Mariacristina Scoto, Darryl C. De Vivo, Danielle Ramsey, Tina Duong, Nicola Forcina, Matthew Civitello, Rachel Salazar, Jacqueline Montes, Marika Pane, Roberto De Sanctis, Francesco Muntoni, Richard S. Finkel, Allan M. Glanzman, Maria Carmela Pera, Elena S. Mazzone, Amy Pasternak, Anna Mayhew
مصطلحات موضوعية: 0301 basic medicine, Male, Physiology, International Cooperation, Clinical scale, Motor function, Severity of Illness Index, Disability Evaluation, 0302 clinical medicine, Statistical analysis, Reliability (statistics), spinal muscular atrophy, education.field_of_study, upper limb function, SMA, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Italy, Upper limb, Female, medicine.medical_specialty, Spinal, Psychometrics, Population, Muscular Atrophy, Spinal, Upper Extremity, 03 medical and health sciences, Cellular and Molecular Neuroscience, outcome measures, Physical medicine and rehabilitation, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Physiology (medical), medicine, Humans, Functional assessment, Hammersmith Functional Motor Scale, Outcome Measures, Rasch Analysis, Spinal Muscular Atrophy, Upper Limb Function, education, business.industry, Rasch analysis, Reproducibility of Results, Spinal muscular atrophy, medicine.disease, United Kingdom, United States, 030104 developmental biology, Physical therapy, Neurology (clinical), functional assessment, Hammersmith functional motor scale, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2f78798fa9a882825333317307062bTest
http://hdl.handle.net/11570/3097249Test