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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 -
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المؤلفون: Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Danilo Tiziano, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Elena Mazzone, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz
المصدر: Neuromuscular Disorders. 28:103-115
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, SMN1, Spinal Muscular Atrophies of Childhood, 03 medical and health sciences, 0302 clinical medicine, Acute care, medicine, Humans, Genetics (clinical), Rehabilitation, business.industry, Disease Management, Spinal muscular atrophy, SMA, medicine.disease, Dysphagia, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Orthopedic surgery, Physical therapy, Nusinersen, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060448e3bce86a13394ec584cb841ce1Test
https://doi.org/10.1016/j.nmd.2017.11.005Test -
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المؤلفون: Jacqueline Montes, Sally Dunaway Young, Elena Mazzone, Marion Main, Bart Bartels, Matthew Civitello, Giorgia Coratti, Tina Duong, Timothy Estilow, Richard Gee, Allan M. Glanzman, Janis Kitsuwa-Lowe, Anna Mayhew, Elizabeth Mirek, Robert Muni Lofra, Shree Pandya, Amy Pasternak, Danielle Ramsey, Rachel Salazar, Jenna Turner, Julie Wells
المصدر: Neuromuscular Disorders. 27:964-969
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, Neurology, business.industry, Family medicine, Pediatrics, Perinatology and Child Health, medicine, MEDLINE, Neurology (clinical), 030105 genetics & heredity, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e6b4c5c6da0af80ee38fdd0847df9f4Test
https://doi.org/10.1016/j.nmd.2017.07.005Test -
4
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 -
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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
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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 -
7
المؤلفون: R. Muni Lofra, Richard S. Finkel, Eugenio Mercuri, Mariacristina Scoto, E. Mazzone, Allan M. Glanzman, Darryl C. De Vivo, A. Mayhew, F. Muntoni, Evelin Milev, Tina Duong, Basil T. Darras, Marion Main, Matthew Civitello, D. Ramsey, J. Day, Jacqueline Montes, Amy Pasternak, V. Straub, Giorgia Coratti
المصدر: Neuromuscular Disorders. 29:S131
مصطلحات موضوعية: medicine.medical_specialty, Scale (ratio), business.industry, Spinal muscular atrophy, SMA, medicine.disease, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::adbdfb33cc59e42bb4ff2271a7305c95Test
https://doi.org/10.1016/j.nmd.2019.06.334Test -
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المؤلفون: Jacqueline Montes, Debra Clayton Krasinski, S Naoshy, Angela D. Paradis, Nicole B. Johnson
المصدر: Value in Health Regional Issues. 19:S76
مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, business.industry, Health Policy, Economics, Econometrics and Finance (miscellaneous), medicine, Spinal muscular atrophy, medicine.disease, SMA, business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a05452bac7b4b038722eeca8f8026b83Test
https://doi.org/10.1016/j.vhri.2019.08.420Test -
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المؤلفون: J. Wong, Jacqueline Montes, Nancy L. Kuntz, Ishir Bhan, Janbernd Kirschner, Richard Foster, Wildon Farwell, Michelle A. Farrar, Mar Tulinius, Basil T. Darras, Sandra P. Reyna, Eugenio Mercuri, Claudia A. Chiriboga, G. Gambino, Perry B. Shieh
المصدر: Neuromuscular Disorders. 29:S184
مصطلحات موضوعية: Neurology, business.industry, Anesthesia, Pediatrics, Perinatology and Child Health, medicine, Nusinersen, Neurology (clinical), Spinal muscular atrophy, SMA, medicine.disease, business, Genetics (clinical), Term (time)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e458f12b48fd8ae31eacad57ce969735Test
https://doi.org/10.1016/j.nmd.2019.06.514Test -
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المؤلفون: Jacqueline Montes, Carol Ewing Garber
المصدر: The Lancet Child & Adolescent Health. 1:82-83
مصطلحات موضوعية: 03 medical and health sciences, Tooth disease, medicine.medical_specialty, 0302 clinical medicine, business.industry, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology, Physical therapy, Medicine, Exercise therapy, 030229 sport sciences, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8811b68eb07260e3ae500f8cf4f6ea8aTest
https://doi.org/10.1016/s2352-4642Test(17)30037-8