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 Neurology

مصطلحات 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

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

المؤلفون: Bart Bartels, Jacqueline Montes, W. Ludo van der Pol, Janke F. de Groot

المصدر: Cochrane Database of Systematic Reviews, 2019(3). John Wiley and Sons Ltd

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Strength training, Physical exercise, Walk Test, Review, Spinal Muscular Atrophies of Childhood, Placebo, law.invention, 03 medical and health sciences, 0302 clinical medicine, Oxygen Consumption, Randomized controlled trial, law, Journal Article, Medicine, Aerobic exercise, Humans, Pharmacology (medical), 030212 general & internal medicine, Muscle Strength, Child, Exercise, Spinal Muscular Atrophies of Childhood/rehabilitation, business.industry, VO2 max, Cardiorespiratory fitness, Resistance Training, Middle Aged, SMA, Physical therapy, business, 030217 neurology & neurosurgery

وصف الملف: image/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1a7a38b70a01260852143126ef4b3cTest
https://pubmed.ncbi.nlm.nih.gov/32621614Test

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

المؤلفون: Giorgia Coratti, Danielle Ramsey, Richard Gee, Janet Quigley, John W. Day, Lavinia Fanelli, Basil T. Darras, Roberto De Sanctis, Tina Duong, Matt Civitello, Mariacristina Scoto, Eugenio Mercuri, Amy Pasternak, Nicola Forcina, Michael P. McDermott, Gihan Tennekoon, William B. Martens, Allan M. Glanzman, Claudia A. Chiriboga, Marion Main, Elena S. Mazzone, Jacqueline Montes, Anna Mayhew, Francesco Muntoni, Sally Dunaway Young, Richard S. Finkel, Elizabeth Mirek, Darryl C. De Vivo, Rachel Salazar, Robert Muni Lofra

المصدر: Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 30(3)

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, 030506 rehabilitation, medicine.medical_specialty, Contracture, Knee Joint, Motor Disorders, Physical Therapy, Sports Therapy and Rehabilitation, Motor function, Muscular Atrophy, Spinal, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Physical medicine and rehabilitation, Medicine, Humans, Range of Motion, Articular, spinal muscular atrophy, Muscle contracture, business.industry, Spinal muscular atrophy, medicine.disease, SMA, Lower Extremity, Pediatrics, Perinatology and Child Health, Female, Hip Joint, medicine.symptom, 0305 other medical science, business, Range of motion, 030217 neurology & neurosurgery, Natural history study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5228e7897390d12699264a66279fbd52Test
https://pubmed.ncbi.nlm.nih.gov/29924071Test

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