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المؤلفون: Luca Mauro, A. Zanolini, Elisa Falcier, Fabio Placidi, Annalisa Rubino, Elisabetta Roma, Federica Amico, Claudio Liguori, Andrea Romigi, Elio Agostoni, Carola Ferrari Aggradi, Paola Rogliani, Francesca Izzi, Federica Cattaneo, Valeria A. Sansone, Matteo Spanetta, Fabrizio Rao, Paola Proserpio, Andrea Lizio Biost, Erica Frezza, Lino Nobili, Roberto Massa, Andrea Lanza, Claudia Galluzzi, Gabriella Pezzuto, Giulia Greco, Alice Pirola
المصدر: J Clin Sleep Med
Web of Scienceمصطلحات موضوعية: Adult, Pulmonary and Respiratory Medicine, Multiple Sleep Latency Test, Pediatrics, medicine.medical_specialty, Sleepiness, Polysomnography, Concordance, Excessive daytime sleepiness, Disorders of Excessive Somnolence, Settore MED/26, Myotonic dystrophy, Quality of life, medicine, Sleep Protocols, Humans, Myotonic Dystrophy, Wakefulness, myotonic dystrophy type 1, medicine.diagnostic_test, business.industry, excessive daytime sleepiness, Epworth Sleepiness Scale, polysomnography, Quality of Life, Self Report, medicine.disease, Scientific Investigations, Neurology, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::361d7a051895aae8fb860bba61ef6f48Test
https://doi.org/10.5664/jcsm.9438Test -
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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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المصدر: Journal of Cardiovascular Medicine. 21:150-152
مصطلحات موضوعية: Secondary prevention, Pediatrics, medicine.medical_specialty, Patient affected, business.industry, 10 year follow up, medicine.medical_treatment, MEDLINE, General Medicine, Implantable cardioverter-defibrillator, medicine.disease, Myotonic dystrophy, medicine, Cardiology and Cardiovascular Medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b3ac8ab08adff26bc2d296bc4040eceaTest
https://doi.org/10.2459/jcm.0000000000000863Test -
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المؤلفون: Tina Duong, Kiera Berggren, Craig Campbell, Tetsuo Ashizawa, Leah Hellerstein, Chiara Marini-Bettolo, Anne Berit Ekström, Nicholas E. Johnson, Nathalie Angeard, Valeria A. Sansone, Eugenio Zapata Aldana, Cuixia Tian
المصدر: Paediatrics Publications
Neurology: Clinical Practiceمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Population, Psychological intervention, MEDLINE, Review, Myotonic dystrophy, 03 medical and health sciences, 0302 clinical medicine, Quality of life, medicine, education, education.field_of_study, business.industry, Triplet repeat, Pediatric age, medicine.disease, 3. Good health, 030211 gastroenterology & hepatology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095c68871835bfcc1ad0741783dc3da6Test
https://doi.org/10.1212/cpj.0000000000000646Test -
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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: Valeria A. Sansone
المصدر: Continuum (Minneapolis, Minn.). 25(6)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Muscle mri, Adolescent, business.industry, Outcome measures, Periodic paralysis, Neuromuscular Diseases, Muscle disorder, Gene mutation, medicine.disease, Myotonia, Paralyses, Familial Periodic, Food and drug administration, Child, Preschool, medicine, Humans, Dichlorphenamide, Female, Neurology (clinical), business, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7655228bb402d9672eff8124abc6a60dTest
https://pubmed.ncbi.nlm.nih.gov/31794467Test -
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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: Valeria A. Sansone, Marla B. Ferschl, Elisa De Mattia, John W. Day, Anne-Berit Ekström, Gordon F. Tomaselli, James E. Hilbert, Todd Goodglick, Tetsuo Ashizawa, Laurie Gutmann, Ericka Simpson, Nicholas E. Johnson, Linda Nguyen, S. H. Subramony, Laurie Sterling, Nathalie Angeard, Marie Kierkegaard, Belen Esparis, Careniña Trujillo, Baziel G.M. van Engelen, Benedikt Schoser, William J. Groh, Tina Duong, Edith H. C. Cup, Elisabetta Roma, Wilma J. Koopman, Shannon L. Venance, Venessa Holland, Kiera Berggren, Janice L.B. Byrne, Ann Broderick, Guillaume Bassez, Daphne Maas, Saman Nazarian, Kari Lane, Chad Heatwole, Peg Nopoulos, Giovanni Meola, Jacinda B. Sampson, Cuixia Tian, Aparajitha Verma, Louis Richer, Marco Bozzali, Subha Raman, Richard T. Moxley, Jack Puymirat, Shahinaz M. Gadalla, Cynthia Gagnon, Katherine D. Mathews, Stefan Winblad, Katy Eichinger, Craig Campbell, Benjamin Gallais, Jeffrey Statland, Richard E. Petty, David J. Moser, Deepak Bhakta, Shree Pandya, Denis Duboc, Chris Turner, Ami Mankodi, Janel Phetteplace, Darren G. Monckton, Molly White, Bruno Eymard, Mark T. Rogers
المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Paediatrics Publications
Neurology. Clinical Practice, 8, 6, pp. 507-520
Neurology: Clinical Practice
Neurology: Clinical Practice, 2018, 8 (6), pp.507-520. ⟨10.1212/CPJ.0000000000000531⟩
Neurology. Clinical Practice, 8, 507-520مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Weakness, [SDV]Life Sciences [q-bio], MEDLINE, Review, Disease, Myotonic dystrophy, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, medicine, Intensive care medicine, business.industry, Guideline, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Clinical trial, 030104 developmental biology, RC0346, Neurology (clinical), Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee3d1ad9bb57439767406ba7ad93787Test
https://ir.lib.uwo.ca/paedpub/202Test -
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المؤلفون: Haluk Topaloglu, Janbernd Kirschner, Wildon Farwell, Richard S. Finkel, Thomas O. Crawford, Yuh-Jyh Jong, Darryl C. De Vivo, Kathryn J. Swoboda, Richard Foster, T. Ben Omran, E. Bertini, Wuh-Liang Hwu, Russell J. Butterfield, Francy Shu, Julie A. Parsons, Nancy L. Kuntz, Stephanie Fradette, Ishir Bhan, Valeria A. Sansone, Monique M. Ryan
المصدر: Neuromuscular Disorders. 29:S185
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Interim, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Spinal muscular atrophy, Stage (cooking), medicine.disease, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::37b7e184d33c8742a736c1da3210af8fTest
https://doi.org/10.1016/j.nmd.2019.06.518Test