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المؤلفون: Nancy L. Kuntz, Julie A. Parsons, Russell J. Butterfield, Francy Shu, Sandra P. Reyna, Janbernd Kirschner, Sarah Gheuens, Marco Petrillo, Darryl C. De Vivo, Kathryn J. Swoboda, Christopher Stebbins, Wildon Farwell, Wuh-Liang Hwu, Haluk Topaloglu, Enrico Bertini, Kristina Johnson, Richard Foster, Douglas A. Kerr, Valeria A. Sansone, Monique M. Ryan, Tawfeg Ben-Omran, Stephanie Fradette, Ishir Bhan, Thomas O. Crawford, Richard S. Finkel, Alfred Sandrock, John F. Staropoli, Yuh-Jyh Jong, Gabriel Braley
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, Male, Weakness, Pediatrics, medicine.medical_specialty, Time Factors, Oligonucleotides, Presymptomatic, Neurofilament, Motor Activity, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, Medicine, Humans, Adverse effect, Genetics (clinical), business.industry, Infant, Newborn, Infant, Spinal muscular atrophy, SMA, medicine.disease, Muscle atrophy, Clinical trial, Survival of Motor Neuron 2 Protein, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::009a698a6201cae9a42c7310edf09bf6Test
http://europepmc.org/articles/PMC7127286Test -
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المؤلفون: Elena Carraro, Stefania Bona, Christian Lunetta, Andrea Lizio, Giordana Donvito, Valeria A. Sansone, Silvia Tavazzi, Nicola Ticozzi, Federica Cozza, Lucia Greco, Barbara Poletti
المساهمون: Cozza, F, Lizio, A, Greco, L, Bona, S, Donvito, G, Carraro, E, Tavazzi, S, Ticozzi, N, Poletti, B, Sansone, V, Lunetta, C
المصدر: Journal of Clinical Neurology (Seoul, Korea)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, amyotrophic lateral sclerosis, Visual acuity, ocular motility, Milano-Torino staging, Near point, Disease, 03 medical and health sciences, 0302 clinical medicine, medicine, Disease process, amyotrophic lateral sclerosi, 030212 general & internal medicine, optometric analysi, Edinburgh Cognitive and Behavioural ALS Screen, Amyotrophic lateral sclerosis, optometric analysis, business.industry, Ocular motility, Cognition, medicine.disease, Neurology, Cohort, visual system, Original Article, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f931bcae5e2e1794173c22c044a020a6Test
http://hdl.handle.net/10281/299825Test -
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المؤلفون: Stephen C. Cannon, Nicholas E. Johnson, Valeria A. Sansone, Bertrand Fontaine, John T. Kissel, Rabi Tawil, Perry B. Shieh, Jeffrey Statland, Robert C. Griggs, Michael G. Hanna, Jaya Trivedi
المصدر: Muscle & Nerve
Muscle & nerve, vol 57, iss 4
Statland, JM; Fontaine, B; Hanna, MG; Johnson, NE; Kissel, JT; Sansone, VA; et al.(2018). Review of the Diagnosis and Treatment of Periodic Paralysis. MUSCLE & NERVE, 57(4), 522-530. doi: 10.1002/mus.26009. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0d47m060Testمصطلحات موضوعية: 0301 basic medicine, Pediatrics, Physiology, Hyperkalemic Periodic, Audiology, Medical and Health Sciences, 0302 clinical medicine, Andersen‐Tawil syndrome, Behavior Therapy, Paralysis, Medicine, Potassium Sparing, Invited Reviews, Carbonic Anhydrase Inhibitors, Diuretics, Andersen Syndrome, medicine.diagnostic_test, treatment, Periodic paralysis, Potassium channel, 3. Good health, medicine.anatomical_structure, Hydrochlorothiazide, Diuretics, Potassium Sparing, medicine.symptom, Acetazolamide, Anti-Arrhythmia Agents, medicine.drug, Weakness, medicine.medical_specialty, Hypokalemic Periodic Paralysis, review, periodic paralyses, Paralyses, Familial Periodic, 03 medical and health sciences, Cellular and Molecular Neuroscience, Andersen–Tawil syndrome, Paralyses, Physiology (medical), Humans, dichlorphenamide, Genetic testing, Neurology & Neurosurgery, Invited Review, Andersen-Tawil syndrome, business.industry, Familial Periodic, Skeletal muscle, medicine.disease, channelopathies, 030104 developmental biology, Potassium, Neurology (clinical), business, Paralysis, Hyperkalemic Periodic, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bfd4827cd1e764e8c9021906bfc96cTest
http://europepmc.org/articles/PMC5867231Test -
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المؤلفون: Adele D'Amico, Giulia Colia, Giulia Norcia, Adnan Y. Manzur, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Marika Pane, Gian Luca Vita, Anne M. Connolly, Enrico Bertini, Terri Carry, Francesco Muntoni, Maria Teresa Arnoldi, Valeria Ricotti, Giovanni Baranello, Francesca Salmin, Simona Lucibello, Angela Berardinelli, Emilio Albamonte, Julie A. Parsons, Alice Gardani, Lianne Abbott, Giorgia Coratti, Sonia Messina, Marion Main
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Duchenne muscular dystrophy, Severity of Illness Index, 03 medical and health sciences, Outcome measure, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Duchenne Muscular dystrophy, Neuromuscular disorders, North Star Ambulatory Assessment, Outcome measure, Adrenal Cortex Hormones, Outcome Assessment, Health Care, medicine, North Star Ambulatory Assessment, Humans, Prospective Studies, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Disease progression, Assessment scale, medicine.disease, Natural history, Muscular Dystrophy, Duchenne, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Neuromuscular Agents, Child, Preschool, Pediatrics, Perinatology and Child Health, Ambulatory, Disease Progression, Multiple linear regression analysis, Neurology (clinical), business, Superior Sagittal Sinus, Duchenne Muscular dystrophy, 030217 neurology & neurosurgery, Neuromuscular disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fe9af31cba2112b8b51a6b78350ce8Test
http://hdl.handle.net/10807/182742Test -
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المؤلفون: Giorgia Coratti, Marika Pane, Simona Lucibello, Sonia Messina, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Francesco Danilo Tiziano, Roberto De Sanctis, Eugenio Mercuri, Enrico Bertini, Concetta Palermo, Giuseppe Vita, Giorgia Brigati, Adele D'Amico, Claudio Bruno, Valeria A. Sansone
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Treatment duration, Oligonucleotides, Neurological examination, CHOP, Spinal Muscular Atrophies of Childhood, CHOP INTEND, Hammersmith Infant Neurological Examination, Nusinersen, Spinal Muscular Atrophy, Werdnig Hoffmann disease, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Motor function, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, SMA, Young adult, Child, Neurologic Examination, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, 030104 developmental biology, Treatment Outcome, Motor Skills, Child, Preschool, Female, business, 030217 neurology & neurosurgery, Werdnig-hoffmann disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f169dbe7635d6c50876f67a0733c9bTest
http://hdl.handle.net/11570/3128391Test -
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المؤلفون: Cynthia Gagnon, Valeria A. Sansone
المصدر: Neuromuscular disorders, 25(5), 432-42. PERGAMON-ELSEVIER SCIENCE LTD
مصطلحات موضوعية: Chronic respiratory insufficiency, Male, medicine.medical_specialty, Pediatrics, business.industry, MEDLINE, Outcome and Process Assessment, Respiratory Insufficiency/complications, Health Care, Outcome and Process Assessment, Health Care, Chronic disease, Neurology, Family medicine, Pediatrics, Perinatology and Child Health, Health care, Chronic Disease, medicine, Myotonic Dystrophy/complications, Humans, Female, Neurology (clinical), business, Genetics (clinical), Netherlands
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::920f4344e6e52fb592e47e90688e09e1Test
https://doi.org/10.1016/j.nmd.2015.01.011Test -
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المؤلفون: Giancarlo Logroscino, Vincenzo Silani, Valeria A. Sansone, Maria Rosaria Monsurrò, Claudia Caponnetto, Christian Lunetta, Amelia Conte, Nilo Riva, Nicola Fini, Andrea Calvo, Sonia Messina, Massimo Russo, Gianluca Drago Ferrante, Gabriele Mora, Gianni Sorarù, Francesca Trojsi, Rosanna Tortelli, Paolo Volanti, Nicola Ticozzi, Kalliopi Marinou, Mario Sabatelli, Adriano Chiò, Giorgia Querin, Jessica Mandrioli, Yuri Matteo Falzone, Carlo Scialò, Cristina Moglia
المساهمون: Calvo, Andrea, Moglia, Cristina, Lunetta, Christian, Marinou, Kalliopi, Ticozzi, Nicola, Ferrante, Gianluca Drago, Scialo, Carlo, Sorarù, Gianni, Trojsi, Francesca, Conte, Amelia, Falzone, Yuri M., Tortelli, Rosanna, Russo, Massimo, Chiò, Adriano, Sansone, Valeria Ada, Mora, Gabriele, Silani, Vincenzo, Volanti, Paolo, Caponnetto, Claudia, Querin, Giorgia, Monsurro', Maria Rosaria, Sabatelli, Mario, Riva, Nilo, Logroscino, Giancarlo, Messina, Sonia, Fini, Nicola, Mandrioli, Jessica
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Delayed Diagnosis, Multivariate analysis, ALS, Population-based registries, Prognostic factors, Referral centers, Survival, Age of Onset, Aged, Amyotrophic Lateral Sclerosis, Body Mass Index, Female, Follow-Up Studies, Humans, Italy, Kaplan-Meier Estimate, Middle Aged, Phenotype, Prognosis, Retrospective Studies, Tertiary Care Centers, 0302 clinical medicine, Amyotrophic lateral sclerosis, Prognostic factor, Univariate analysis, education.field_of_study, Settore MED/26 - NEUROLOGIA, Neurology, medicine.medical_specialty, Neurology (clinical), Population, Population-based registrie, 03 medical and health sciences, medicine, Dementia, Referral center, education, business.industry, Clinical study design, Retrospective cohort study, medicine.disease, 030104 developmental biology, Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d522742d9ad6ff80cbe9606259d6744aTest
https://hdl.handle.net/11380/1237978Test -
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المؤلفون: Emilia Bobeica, Cristina Ponzanelli, Paolo Stoia, Emilio Albamonte, Valeria A. Sansone, Fabrizio Rao, Claudio Bruno, Cristina Faraone, Danilo Tiziano, Valeria Cozzi, Marika Pane, Elisa De Mattia, Anna Maria Bonetti, Maria Sframeli, Marcello Villanova, Orazio Genovese, Anna Mandelli, Chiara Mastella, Marco Piastra, Sara Luppone, Francesca Penno, Adele D'Amico, Sonia Messina, Anna Ambrosini, Alessandro Pedicelli, Antonio Versaci, Stefania La Foresta, Luca Binetti, Alessia D'Agostino, Nicola Forcina, Giulia Colia, Elisa Falcier, Maria Macrì, Maurizio Heinen, Luca Mancini, Jacopo Casiraghi, Maria Beatrice Chiarini, Carlo Gandolfo, Concetta Palermo, Marta Ferretti, Maria Letizia Solinas, Giuseppe Vita, Imma Rulli, Giovanni Montobbio, Anita Pallara, Alice Pirola, Daniela Leone, Michela Catteruccia, Grazia Zappa, Renato Cutrera, Paola Tacchetti, Adelina Carlesi, Eloisa Gitto, Daniela Lauro, Alberto Fontana, Valentina Iurilli, Emma Mizzotti, Beatrice Travaglia, Enrico Bertini, Eugenio Mercuri, Fausto Fedeli, Marina Pedemonte, Roberto De Sanctis, Alberto Garaventa, Simona Spinoglio
مصطلحات موضوعية: 0301 basic medicine, MEDLINE, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Settore MED/41 - ANESTESIOLOGIA, Medicine, Humans, Genetics (clinical), Medical education, business.industry, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Perinatology and Child Health, SMA, Survival of Motor Neuron 1 Protein, 030104 developmental biology, Italy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Expanded access, Nusinersen, Expanded access program, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8e96590fdb983f12a8b61d41c5e4edTest
http://hdl.handle.net/10807/118563Test -
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المؤلفون: Luisa Politano, Giovanni Baranello, Gianluca Vita, Enrico Bertini, Tiziana Mongini, Marika Pane, Angela Berardinelli, Grazia D'Angelo, Eugenio Mercuri, Valeria A. Sansone, Stefano C. Previtali, Adele D'Amico, Elena Pegoraro, Claudio Bruno, Sonia Messina, Roberta Battini, Ksenija Gorni, Giacomo P. Comi, Federica Ricci, Antonella Pini
المساهمون: Mercuri, Eugenio, Baranello, G., Battini, R., Berardinelli, A., Bertini, E., Bruno, C., Comi, G. P., D'Amico, A., D'Angelo, G., Gorni, K., Messina, S., Mongini, T., Pane, M., Pegoraro, E., Pini, A., Politano, Luisa, Previtali, S., Ricci, F., Sansone, V., Vita, G. L.
مصطلحات موضوعية: Male, Registrie, Pediatrics, medicine.medical_specialty, Neurology, Standard of care, Duchenne muscular dystrophy, Tertiary Care Center, MEDLINE, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Tertiary care, Cohort Studies, Tertiary Care Centers, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Muscular Dystrophy, Registries, Muscular dystrophy, Preschool, Child, Child, Preschool, Italy, Muscular Dystrophy, Duchenne, Steroids, Standard of Care, Steroid, business.industry, Perinatology and Child Health, Duchenne, medicine.disease, Settore MED/26 - NEUROLOGIA, Multicenter study, Physical therapy, Cohort Studie, business, 030217 neurology & neurosurgery, Human, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093f218acd8cd0b4f0137109198ce4ceTest
http://hdl.handle.net/11570/3094538Test