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المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test -
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المؤلفون: Umrao R. Monani, Carol Ewing Garber, Ashley M. Goodwin, Margarethe Hauschildt, Julia Cocchi, Kayla Coutts, Michael P. McDermott, Jacqueline Montes, Darryl C. De Vivo, Feliz Marie Hernandez, David Uher, Kayla M.D. Cornett, Ashwini Rao
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1086-1095 (2021)مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, Absorptiometry, Photon, Oxygen Consumption, 0302 clinical medicine, Cardiopulmonary exercise test, Internal medicine, medicine, Humans, Deoxygenated Hemoglobin, Increased fatigue, RC346-429, Child, Muscle, Skeletal, Exercise, Research Articles, Fatigue, Aerobic capacity, Spectroscopy, Near-Infrared, business.industry, General Neuroscience, Mitochondrial Myopathies, Spinal muscular atrophy, Middle Aged, SMA, medicine.disease, Oxygen uptake, 030104 developmental biology, Ambulatory, Exercise Test, Cardiology, Female, Neurology. Diseases of the nervous system, Neurology (clinical), business, human activities, 030217 neurology & neurosurgery, RC321-571, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ca63e7db6bf28ba9c75da6edf4ea59Test
https://doi.org/10.1002/acn3.51353Test -
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المؤلفون: Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras
المصدر: ANNALS OF NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Adolescent, Models, Neurological, Gene Dosage, Spinal Muscular Atrophies of Childhood, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Humans, Survival of Motor Neuron 2 Protein, Models, Internal medicine, medicine, Preschool, business.industry, Repeated measures design, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Neurological, Cohort, Neurology (clinical), sma, Age of onset, business, 030217 neurology & neurosurgery, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eecTest
https://doi.org/10.1002/ana.25900Test -
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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: Allan M. Glanzman, Elena S. Mazzone, Sally Dunaway Young, Eugenio Mercuri, Wildon Farwell, Eugene Schneider, Basil T. Darras, Darryl C. De Vivo, Kathie M. Bishop, C. Frank Bennett, Richard S. Finkel, Jacqueline Montes, Francesco Muntoni, Richard Foster, Amy Pasternak
المصدر: Muscle & Nerve
مصطلحات موضوعية: Male, 0301 basic medicine, 6‐minute walk test, medicine.medical_specialty, Percentile, Adolescent, Physiology, Oligonucleotides, Walk Test, Walking, 030105 genetics & heredity, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physical medicine and rehabilitation, Physiology (medical), medicine, Humans, Child, spinal muscular atrophy, Aged, neuromuscular junction, business.industry, nusinersen, Infant, Muscle weakness, Spinal muscular atrophy, medicine.disease, SMA, Gait, Walk test, Child, Preschool, Clinical Research Short Report, Ambulatory, Clinical Research Short Reports, Female, fatigue, Nusinersen, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1d596a49ceffccfbb8d0b1cf721eb4Test
https://doi.org/10.1002/mus.26633Test -
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المؤلفون: Ishir Bhan, Laurence Mignon, Wildon Farwell, Darryl C. De Vivo, Claudia A. Chiriboga, Peng Sun, Jacqueline Montes, Kathryn J. Swoboda, Allison M. Green, Basil T. Darras, Shuting Xia, Eugene Schneider, C. Frank Bennett, Jeremy M. Shefner, Susan T. Iannaccone, Kathie M. Bishop, Sarah Gheuens
المصدر: Neurology
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Motor unit number estimation, Child, Adverse effect, business.industry, Infant, Spinal muscular atrophy, medicine.disease, SMA, Compound muscle action potential, Treatment Outcome, 030104 developmental biology, medicine.anatomical_structure, Multicenter study, Child, Preschool, Anesthesia, Upper limb, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4212263c1ab98e1129bfc40bcc6e25caTest
https://doi.org/10.1212/wnl.0000000000007527Test -
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المؤلفون: Jacqueline Montes, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras, Francesca Bovis, Francesco Muntoni, Maria Pia Sormani, John W. Day, Marion Main, Mariacristina Scoto, Roberto De Sanctis, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Robert Muni Lofra, Marika Pane, Volker Straub, Richard S. Finkel, Giorgia Coratti, Danielle Ramsey, Tina Duong, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew
المصدر: Muscle & Nerve. 59:426-430
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Physiology, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, SMA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Spinal Muscular Atrophy Type 2, 0302 clinical medicine, Muscle nerve, medicine.anatomical_structure, Physical medicine and rehabilitation, Physiology (medical), Functional abilities, medicine, Upper limb, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe8e2dcdbcb94b0e97b2e4a26b5c264dTest
https://doi.org/10.1002/mus.26419Test -
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المؤلفون: Jacqueline Montes, Marika Pane, Enrico Bertini, Francesco Muntoni, Maria Carmela Pera, Anna Lia Frongia, Amy Pasternak, Eugenio Mercuri, Valeria A. Sansone, John W. Day, Maria Sframeli, Francesca Salmin, Adele D'Amico, Matthew Civitello, Simona Lucibello, Sally Dunaway Young, Claudio Bruno, Laura Antonaci, Giorgia Coratti, Sara Carnicella, Tina Duong, Darryl C. De Vivo, Richard S. Finkel, Allan M. Glanzman, Sonia Messina, Paola Tacchetti, Basil T. Darras
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Cohort Studies, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Age related, Nusinersen, medicine, Functional outcome measures, Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, Spinal Muscular Atrophy, Age Factors, Child, Child, Preschool, Female, Humans, Linear Models, Multivariate Analysis, Treatment effect, Preschool, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, SMA, Spinal muscular atrophy type II, Natural history, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d0065b03b941235c643e5f4d33786Test
http://hdl.handle.net/11567/1087190Test -
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المؤلفون: Sally Dunaway Young, William B. Martens, Richard S. Finkel, Jacqueline Montes, Basil T. Darras, Allan M. Glanzman, Elizabeth Mirek, Rachel Salazar, Darryl C. De Vivo, Amy Pasternak
المصدر: Journal of neuromuscular diseases. 7(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Weakness, medicine.medical_specialty, Adolescent, Scoliosis, Spinal Muscular Atrophies of Childhood, Pulmonary function testing, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Postoperative Complications, Quality of life, medicine, Humans, Orthopedic Procedures, Child, Pelvis, Movement Disorders, business.industry, Spinal muscular atrophy, SMA, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Outcome and Process Assessment, Health Care, Neurology, Child, Preschool, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Natural history study, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57b3066ed1f4526980b3e95797ba592bTest
https://pubmed.ncbi.nlm.nih.gov/32083590Test