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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 -
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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
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات 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 -
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المؤلفون: Stephen J. Kolb, Jacqueline Montes, Marika Pane, Giorgia Coratti, Simona Lucibello, Marco Perulli, Eugenio Mercuri, Roberto De Sanctis, Richard S. Finkel, Darryl C. De Vivo, Basil T. Darras, Maria Carmela Pera
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Natural history, lcsh:Medicine, Review, Neonatal onset, Disease, Spinal Muscular Atrophies of Childhood, CHOP, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, lcsh:R, Infant, Newborn, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Clinical trial, Settore MED/26 - NEUROLOGIA, Phenotype, 030104 developmental biology, Italy, Cohort, business, CHOP INTEND, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db75db350724f0c00b7760581e5165a7Test
http://link.springer.com/article/10.1186/s13023-020-01356-1Test -
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المؤلفون: Francesca Priolo, Marika Pane, Francesco Danilo Tiziano, Giovanni Vento, Roberto De Sanctis, Simonetta Costa, Eugenio Mercuri, Giorgio Conti, Eloisa Tiberi, Domenico M. Romeo
المصدر: Annals of Clinical and Translational Neurology
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Relative efficacy, Case Study, business.industry, General Neuroscience, MEDLINE, Spinal muscular atrophy, medicine.disease, SMA, type 0 spinal muscular atrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Text mining, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Internal medicine, medicine, Nusinersen, Neurology (clinical), Respiratory system, business, 030217 neurology & neurosurgery, After treatment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::175884737437bf57259cb2672acc33a6Test
http://europepmc.org/articles/PMC7732235Test -
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المؤلفون: Jacqueline Montes, Eugenio Mercuri, Darryl C. De Vivo, Basil T. Darras, Francesca Bovis, Francesco Muntoni, Maria Pia Sormani, John W. Day, Marion Main, Mariacristina Scoto, Roberto De Sanctis, Maria Carmela Pera, Amy Pasternak, Sally Dunaway Young, Robert Muni Lofra, Marika Pane, Volker Straub, Richard S. Finkel, Giorgia Coratti, Danielle Ramsey, Tina Duong, Allan M. Glanzman, Elena S. Mazzone, Anna Mayhew
المصدر: Muscle & Nerve. 59:426-430
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Physiology, business.industry, Spinal muscular atrophy, 030105 genetics & heredity, medicine.disease, SMA, 03 medical and health sciences, Cellular and Molecular Neuroscience, Spinal Muscular Atrophy Type 2, 0302 clinical medicine, Muscle nerve, medicine.anatomical_structure, Physical medicine and rehabilitation, Physiology (medical), Functional abilities, medicine, Upper limb, In patient, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fe8e2dcdbcb94b0e97b2e4a26b5c264dTest
https://doi.org/10.1002/mus.26419Test -
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المؤلفون: Gloria Ferrantini, Marika Pane, Beatrice Berti, Eugenio Mercuri, Nicola Forcina, Roberto De Sanctis, Cristina De Rose, Danilo Buonsenso
المصدر: J Ultrasound
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Point-of-Care Systems, Diaphragm, Diaphragmatic breathing, Case Report, Muscular Atrophy, Spinal, 03 medical and health sciences, Diaphragm ultrasound, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, SMARD1, Internal medicine, Ultrasound, Internal Medicine, medicine, Animals, Humans, Radiology, Nuclear Medicine and imaging, Lung, Mechanical ventilation, Respiratory Distress Syndrome, Newborn, Lung ultrasound, Respiratory distress, JUSD-D-21–00,057, business.industry, Precision medicine, Infant, General Medicine, Spinal muscular atrophy, Diaphragm function, medicine.disease, Personalized medicine, Diaphragm (structural system), DNA-Binding Proteins, medicine.anatomical_structure, Dyspnea, 030228 respiratory system, Respiratory failure, Breathing, Cardiology, Female, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766edd07ddfe56358741c97170c62b91Test
http://hdl.handle.net/10807/205916Test -
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المؤلفون: Valeria A. Sansone, Giorgia Brigati, Adele D'Amico, Eugenio Mercuri, Daniela Leone, Emilio Albamonte, Maria Sframeli, Chiara Bravetti, Beatrice Berti, Sonia Messina, Concetta Palermo, Francesco Danilo Tiziano, Giorgia Coratti, Claudio Bruno, Francesca Salmin, Michela Catteruccia, Marco Piastra, Maria Carmela Pera, Gianluca Vita, Marika Pane, Paola Tacchetti, Marina Pedemonte, Enrico Bertini, Roberto De Sanctis, Simona Lucibello, Orazio Genovese
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 548-557 (2021)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, Outcome Assessment, Oligonucleotides, Neurological examination, Neurosciences. Biological psychiatry. Neuropsychiatry, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Outcome Assessment, Health Care, medicine, Humans, RC346-429, Child, Preschool, Research Articles, spinal muscular atrophy, medicine.diagnostic_test, business.industry, General Neuroscience, Child, Preschool, Follow-Up Studies, Infant, Survival of Motor Neuron 2 Protein, Repeated measures design, Spinal muscular atrophy, medicine.disease, SMA, Natural history, Health Care, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Long term data, Nusinersen, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, Research Article, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e14061f27a5a65a5c95aae2d46ace23Test
http://hdl.handle.net/11570/3220978Test -
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المؤلفون: Giulia Norcia, Beatrice Berti, Valentina Giorgio, Nicola Forcina, Daniela Leone, Richard S. Finkel, Concetta Palermo, Antonella Cerchiari, Eugenio Maria Mercuri, Giorgia Coratti, Lavinia Fanelli, Simona Lucibello, Marika Pane, Roberta Onesimo, Roberto De Sanctis, Sara Carnicella
المصدر: Journal of Neuromuscular Diseases
مصطلحات موضوعية: Research Report, Male, medicine.medical_specialty, dysphagia, Population, Spinal Muscular Atrophies of Childhood, oral motor function, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Swallowing, Surveys and Questionnaires, Functional abilities, Activities of Daily Living, Humans, Medicine, 030212 general & internal medicine, education, Fatigue, education.field_of_study, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Significant difference, Infant, Newborn, Infant, Developmentally Appropriate Practice, Spinal muscular atrophy, SMA, Checklist, Deglutition, Settore MED/26 - NEUROLOGIA, Neurology, Swallowing impairment, Physical therapy, Female, Neurology (clinical), Deglutition Disorders, business, type 1 SMA infants, swallowing, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::801d656f860a7a8e23f987deec115998Test
http://hdl.handle.net/10807/187121Test -
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المؤلفون: Giorgia Coratti, Marika Pane, Lavinia Fanelli, Simona Lucibello, Eugenio Mercuri, Emanuela Abiusi, Nicola Forcina, Concetta Palermo, Roberto De Sanctis, Stefania Fiori, Daniela Leone, Elena S. Mazzone, Francesco Danilo Tiziano, Maria Carmela Pera
المصدر: Neuromuscular Disorders. 28:24-28
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Spinal Muscular Atrophies of Childhood, CHOP, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, Respiratory system, Genetics (clinical), Retrospective Studies, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Survival Analysis, Phenotype, Survival of Motor Neuron 2 Protein, Clinical trial, Natural history, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Nutrition Therapy, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171f4a136e565875afa901a241c6a78aTest
https://doi.org/10.1016/j.nmd.2017.09.015Test -
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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
