المؤلفون: Sally Dunaway Young, Damiano Zanotto, Jacqueline Montes, Darryl C. De Vivo, Rachel Salazar, Sunil K. Agrawal

المصدر: Muscle & Nerve. 56:230-236

مصطلحات موضوعية: medicine.medical_specialty, Physiology, Gait Disturbance, business.industry, Forefoot, 0206 medical engineering, STRIDE, 02 engineering and technology, SMA, 020601 biomedical engineering, Preferred walking speed, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physical medicine and rehabilitation, Gait (human), Physiology (medical), Gait analysis, Physical therapy, Criterion validity, Medicine, Neurology (clinical), business, human activities, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5dbafbea424f49956cddf8610a9733b2Test
https://doi.org/10.1002/mus.25484Test

المؤلفون: C. Frank Bennett, John W. Day, Kathie M. Bishop, Eugene Schneider, Frank Rigo, Daniel A. Norris, Richard S. Finkel, Jiri Vajsar, Gene Hung, Jacqueline Montes, Mason Yamashita, Shuting Xia, Darryl C. De Vivo, Claudia A. Chiriboga

المصدر: The Lancet. 388:3017-3026

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, General Medicine, Spinal muscular atrophy, SMN1, Motor neuron, medicine.disease, Interim analysis, Surgery, Clinical trial, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Tolerability, Internal medicine, medicine, Nusinersen, Adverse effect, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::252b48c9096ea07b649a3809b33741ffTest
https://doi.org/10.1016/s0140-6736Test(16)31408-8

المؤلفون: Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hammersmith Infant Neurological Examination, Motor milestones, Outcome measures, Spinal muscular atrophy, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Clinical Neurology, Neurological examination, Spinal Muscular Atrophies of Childhood, Sitting, Settore MED/03 - GENETICA MEDICA, Pediatrics, Article, 03 medical and health sciences, Child Development, 0302 clinical medicine, medicine, Milestone (project management), Humans, Genetics(clinical), Longitudinal Studies, Pediatrics, Perinatology, and Child Health, Retrospective Studies, Neurologic Examination, Type I Spinal Muscular Atrophy, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, medicine.disease, SMA, Natural history, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Motor Skills, Child, Preschool, Developmental Milestone, Disease Progression, Physical therapy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7714d095011ab42d85620d4e5d2d78Test

المؤلفون: Rachel Salazar, Timothy Harrington, Heather Szelag Fournier, Janet Quigley, Gihan Tennekoon, Sally Dunaway, Shree Pandya, Georgios D. Sideridis, Jacqueline Montes, Michael P. McDermott, Rosangel Cruz, Nicole M. LaMarca, Jonathan Greenwood, Lavanya Madabusi, Allan M. Glanzman, Claudia A. Chiriboga, Richard S. Finkel, Darryl C. De Vivo, Nancy M Videon, Maria A. Fragala-Pinkham, Susan O'Riley, Basil T. Darras, William B. Martens, Amy Pasternak

المصدر: Muscle & Nerve. 54:1097-1107

مصطلحات موضوعية: Male, 030506 rehabilitation, medicine.medical_specialty, Activities of daily living, Adolescent, Physiology, Item bank, Muscular Atrophy, Spinal, Disability Evaluation, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physical medicine and rehabilitation, Physiology (medical), Activities of Daily Living, Outcome Assessment, Health Care, medicine, Humans, Disabled Persons, Diagnosis, Computer-Assisted, Mobility Limitation, Young adult, Child, Stochastic Processes, Rasch model, Infant, Newborn, Infant, Reproducibility of Results, Spinal muscular atrophy, SMA, medicine.disease, Test (assessment), Caregivers, Child, Preschool, Female, Neurology (clinical), Computerized adaptive testing, 0305 other medical science, Psychology, Locomotion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1533262699f20d44d7ec05a07bdd9d67Test
https://doi.org/10.1002/mus.25164Test

المؤلفون: Perry B. Shieh, Eugenio Mercuri, J. Wong, G. Gambino, Claudia A. Chiriboga, Mar Tulinius, Jacqueline Montes, Wildon Farwell, Michelle A. Farrar, Basil T. Darras, Sandra P. Reyna, Richard Foster, Janbernd Kirschner, Nancy L. Kuntz, Ishir Bhan

المصدر: Journal of the Neurological Sciences. 405:248-249

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, medicine, Nusinersen, Neurology (clinical), Spinal muscular atrophy, business, medicine.disease, SMA, Interim report, Surgery, Term (time)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d06adf27979007352b70fea1c784993aTest
https://doi.org/10.1016/j.jns.2019.10.1272Test

المؤلفون: Jacqueline Montes, Lisa Yoon

المصدر: Musclenerve. 60(3)

مصطلحات موضوعية: medicine.medical_specialty, Movement disorders, Movement Disorders, Physiology, business.industry, Postural control, Cellular and Molecular Neuroscience, Tooth disease, Physical medicine and rehabilitation, Charcot-Marie-Tooth Disease, Physiology (medical), medicine, Humans, Neurology (clinical), medicine.symptom, Nervous System Diseases, business, Child, Balance (ability)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a20e109cd0ad0ebb83cea3b28b36256cTest
https://pubmed.ncbi.nlm.nih.gov/31026080Test

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, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane

مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test

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: Jacqueline Montes, Robert J. Fee, Jennifer L. Stewart, Veronica J. Hinton

المصدر: Journal of the International Neuropsychological Society : JINS. 24(9)

مصطلحات موضوعية: Male, Adolescent, Academic achievement, 050105 experimental psychology, Developmental psychology, Dystrophin, 03 medical and health sciences, Executive Function, 0302 clinical medicine, Memory span, Humans, 0501 psychology and cognitive sciences, Child, Motor skill, Intelligence Tests, Behavior, Academic Success, Intelligence quotient, Working memory, General Neuroscience, 05 social sciences, Cognitive flexibility, Cognition, Spelling, Psychiatry and Mental health, Clinical Psychology, Cross-Sectional Studies, Memory, Short-Term, Social Class, Child, Preschool, Mutation, Educational Status, Neurology (clinical), Psychology, Comprehension, 030217 neurology & neurosurgery, Psychomotor Performance

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da574f5ebd19751b655d01d34378d4bbTest
https://pubmed.ncbi.nlm.nih.gov/30375314Test