المؤلفون: Ricky Cheng, Julia Feng, Ashley M. Goodwin, David Uher, Ashwini K. Rao, Michael P. McDermott, Darryl C. De Vivo, Carol Ewing Garber, Jacqueline Montes

المصدر: Muscle & Nerve.

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa8d3874aa50bf08247d1d77b8ed449Test
https://doi.org/10.1002/mus.27765Test

المؤلفون: Ton T. H. Duong, Leo Musacchia, David Uher, Jacqueline Montes, Damiano Zanotto

المصدر: 2022 9th IEEE RAS/EMBS International Conference for Biomedical Robotics and Biomechatronics (BioRob).

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::73c511bce40c72880db7675724d8282aTest
https://doi.org/10.1109/biorob52689.2022.9925432Test

المؤلفون: Ton T. H. Duong, David Uher, Jacqueline Montes, Damiano Zanotto

المصدر: 2022 9th IEEE RAS/EMBS International Conference for Biomedical Robotics and Biomechatronics (BioRob).

مصطلحات موضوعية: Human-Computer Interaction, Control and Optimization, Artificial Intelligence, Control and Systems Engineering, Mechanical Engineering, Biomedical Engineering, Computer Vision and Pattern Recognition, Computer Science Applications

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::448bf04ef3e9f3aaefaee67c7825feb9Test
https://doi.org/10.1109/biorob52689.2022.9925519Test

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: 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. 9(6)

مصطلحات موضوعية: Treatment Outcome, General Neuroscience, Oligonucleotides, Humans, Infant, Neurology (clinical), Spinal Muscular Atrophies of Childhood, Child, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e6da626f90d7f37b47eff6eb548194Test
https://pubmed.ncbi.nlm.nih.gov/35567345Test

المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

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: Adel Ardalan, Natasha Yamane, Ashwini K Rao, Jacqueline Montes, Sylvie Goldman

المصدر: Health informatics journal. 27(4)

مصطلحات موضوعية: Computers, Neurodevelopmental Disorders, Research Design, Humans, Health Informatics, Child, Gait

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d47417a67cfc7a912f3a0b812f868959Test
https://pubmed.ncbi.nlm.nih.gov/34989252Test

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