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1دورية أكاديمية
المؤلفون: Richard S. Finkel, Monique M. Ryan, Samuel Ignacio Pascual Pascual, John W. Day, Eugenio Mercuri, Darryl C. De Vivo, Richard Foster, Jacqueline Montes, Juliana Gurgel‐Giannetti, Drew MacCannell, Zdenek Berger
المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 819-829 (2022)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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2دورية أكاديمية
المؤلفون: Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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3دورية أكاديمية
المؤلفون: Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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4دورية أكاديمية
المؤلفون: Jacqueline Montes, Ashley M. Goodwin, Michael P. McDermott, David Uher, Feliz Marie Hernandez, Kayla Coutts, Julia Cocchi, Margarethe Hauschildt, Kayla M. Cornett, Ashwini K. Rao, Umrao R. Monani, Carol Ewing Garber, Darryl C. De Vivo
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1086-1095 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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5دورية أكاديمية
المؤلفون: Sylvie Goldman, Aston K. McCullough, Sally Dunaway Young, Carly Mueller, Adrianna Stahl, Audrey Zoeller, Laurel Daniels Abbruzzese, Ashwini K. Rao, Jacqueline Montes
المصدر: Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-5 (2019)
مصطلحات موضوعية: Gait, Motor function, 16p11.2, Children, Neurodevelopment disorder, Autism spectrum disorder, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s11689-019-9286-9Test; https://doaj.org/toc/1866-1947Test; https://doaj.org/toc/1866-1955Test
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6
المؤلفون: Larry N. Singh, Atif Towheed, Jacqueline Montes, Darryl C. De Vivo, Angela Ho, Christian L. Hietanen, Vasudeva G. Kamath, Kristin Engelstad, Kayla M.D. Cornett
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: Adult, Male, Mitochondrial Diseases, Chromosomes, Human, Pair 21, Mitochondrial disease, Neurosciences. Biological psychiatry. Neuropsychiatry, Brief Communication, Craniofacial Abnormalities, Exon, Young Adult, Intellectual Disability, medicine, Cytochrome c oxidase, Humans, RC346-429, Exome sequencing, Genetics, Cystinuria, biology, business.industry, General Neuroscience, Siblings, medicine.disease, Hypotonia, Lactic acidosis, Failure to thrive, biology.protein, Muscle Hypotonia, Female, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Chromosome Deletion, business, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be964ca96db7056398b093aaba87357aTest
https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765faTest -
7
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 -
8
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