المؤلفون: Elizabeth R. Harding, Cara H. Kanner, Amy Pasternak, Allan M. Glanzman, Sally Dunaway Young, Ashwini K. Rao, Michael P. McDermott, Zarazuela Zolkipli-Cunningham, John W. Day, Richard S. Finkel, Basil T. Darras, Darryl C. De Vivo, Jacqueline Montes

المصدر: Journal of Clinical Medicine, Vol 13, Iss 9, p 2634 (2024)

مصطلحات موضوعية: spinal muscular atrophy, range of motion, joint, hypermobility, contractures, function, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/13/9/2634Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/ec40fa1748d2427183e46ccf919ad669Test

المؤلفون: Sally Dunaway Young, Jacqueline Montes, Allan M. Glanzman, Richard Gee, John W. Day, Richard S. Finkel, Basil T. Darras, Darryl C. De Vivo, Giulia Gambino, Richard Foster, Janice Wong, Steve Garafalo, Zdenek Berger

المصدر: Journal of Clinical Medicine, Vol 12, Iss 15, p 4901 (2023)

مصطلحات موضوعية: children, motor function, nusinersen, scoliosis, spinal muscular atrophy, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/15/4901Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/63f2d17ec03a4beca92d3e9726a2a927Test

المؤلفون: Rafael S. Rodriguez-Torres, David Uher, Emma L. Gay, Giorgia Coratti, Sally Dunaway Young, Annemarie Rohwer, Robert Muni Lofra, Darryl C. De Vivo, Michio Hirano, Nancy W. Glynn, Jacqueline Montes

المصدر: Journal of Clinical Medicine, Vol 12, Iss 10, p 3458 (2023)

مصطلحات موضوعية: fatigue, fatigability, spinal muscular atrophy, patient-reported outcome measure, perceived fatigability, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/10/3458Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/e43e523ff048411faa1a2f89a389637dTest

المؤلفون: Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: Journal of Clinical Medicine, Vol 12, Iss 5, p 1920 (2023)

مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/12/5/1920Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/6627d452f8534ca9a909127dd9074e1bTest

المؤلفون: Eugenio Mercuri, Simona Lucibello, Marco Perulli, Giorgia Coratti, Roberto de Sanctis, Maria Carmela Pera, Marika Pane, Jacqueline Montes, Darryl C. de Vivo, Basil T. Darras, Stephen J. Kolb, Richard S. Finkel

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Spinal muscular atrophy, Natural history, CHOP INTEND, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01356-1Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/16a5f223b95a41ae9a03dda5c91d43daTest

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

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

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
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات 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

المؤلفون: Darryl C. De Vivo, Ashwini Rao, Jacqueline Montes, Rafael Rodriguez-Torres, Stacy A. Kinirons, Ashley M. Goodwin, Julia Fabiano

المصدر: J Neuromuscul Dis

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Models, Neurological, Article, Segmental innervation, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Lumbar, Physical medicine and rehabilitation, Humans, Medicine, Mobility Limitation, Child, Muscle, Skeletal, Gait Disorders, Neurologic, 030304 developmental biology, 0303 health sciences, Muscle Weakness, business.industry, Muscle weakness, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Gait, medicine.anatomical_structure, Neurology, Ambulatory, Exercise Test, Female, Neurology (clinical), Ankle, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13927b01d91150987e02514c31c926ffTest
https://doi.org/10.3233/jnd-200550Test

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