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المؤلفون: Valeria A. Sansone, Francesca Bovis, Richard S. Finkel, Maria Carmela Pera, Eugenio Mercuri, Laura Antonaci, Giorgia Coratti, Fabrizia Chieppa, Marika Pane, Marta Ponzano, Costanza Cutrona
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: medicine.medical_specialty, Spinal, Oligonucleotides, Review, Critical review, Nusinersen, Spinal muscular atrophy, Child, Humans, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Motor function, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Pharmacology (medical), Time point, Genetics (clinical), business.industry, General Medicine, SMA, medicine.disease, Muscular Atrophy, Meta-analysis, Medicine, Functional status, business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a2896e190acd33d257649bc13b1f3dTest
https://doi.org/10.1186/s13023-021-02065-zTest -
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المؤلفون: Matteo Spanetta, Annalisa Rubino, Lino Nobili, Giulia Greco, Valeria A. Sansone, Federica Cattaneo, Roberto Massa, Luca Mauro, Paola Proserpio, Erica Frezza, Nicola Biagio Mercuri, Mariana Fernandes, Andrea Romigi, Fabio Placidi, Claudio Liguori, Francesca Izzi, Elio Agostoni
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Excessive daytime sleepiness, Delayed sleep-wake cycle, Documentation, Disorders of Excessive Somnolence, Settore MED/26, Myotonic dystrophy, Rhythm, Internal medicine, medicine, Humans, Myotonic Dystrophy, Actigraphy, Chronotype, Circadian rhythm, business.industry, General Medicine, medicine.disease, Sleep in non-human animals, Circadian Rhythm, Cardiology, Sleep diary, medicine.symptom, business, Sleep
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfbef0f0fc9b34574653c42c5c28c3fbTest
http://hdl.handle.net/2108/285987Test -
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المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 57:e149-e151
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, business.industry, Biochemistry (medical), Clinical Biochemistry, General Medicine, medicine.disease, Dysphagia, Polymyositis, Gastroenterology, 03 medical and health sciences, Elevation (emotion), 030104 developmental biology, 0302 clinical medicine, Internal medicine, biology.protein, medicine, Creatine kinase, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94bf21528f79287a9f1d1ced2ec4c28fTest
https://doi.org/10.1515/cclm-2018-0928Test -
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المؤلفون: Elisa De Mattia, Andrea Lizio, Elena Carraro, Christian Lunetta, Giulia Sannicolò, Fabrizio Rao, Alice Pirola, Valeria A. Sansone
المصدر: Clinical Neurology and Neurosurgery. 184:105456
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Vital capacity, Supine position, Vital Capacity, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Internal medicine, medicine, Humans, Respiratory function, Functional ability, Amyotrophic lateral sclerosis, Survival analysis, Aged, business.industry, Amyotrophic Lateral Sclerosis, General Medicine, Middle Aged, Prognosis, medicine.disease, Survival Analysis, Respiratory Function Tests, 030220 oncology & carcinogenesis, Disease Progression, Female, Surgery, Neurology (clinical), Respiratory Insufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f927e452422bd41870de19c211b6f890Test
https://doi.org/10.1016/j.clineuro.2019.105456Test -
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المؤلفون: Enrico Bugiardini, Elena Passeri, Alessandro Pizzocaro, Cinzia Fulceri, Sabrina Corbetta, S. Borgato, Luca Persani, Giovanni Meola, Bruno Ambrosi, Valeria A. Sansone, Elena Costa, Francesco Bandera, Rea Valaperta
المصدر: European Journal of Clinical Investigation. 45:702-710
مصطلحات موضوعية: Adult, Anti-Mullerian Hormone, Male, endocrine system, medicine.medical_specialty, Waist, endocrine system diseases, Clinical Biochemistry, Intra-Abdominal Fat, Biochemistry, Absorptiometry, Photon, Interquartile range, Internal medicine, medicine, Humans, Insulin, Myotonic Dystrophy, Inhibins, In patient, Muscle Strength, Muscle, Skeletal, Testosterone, Subclinical infection, Sertoli Cells, Leydig cell, urogenital system, business.industry, Hypogonadism, Leydig Cells, Proteins, General Medicine, Middle Aged, Sertoli cell, female genital diseases and pregnancy complications, medicine.anatomical_structure, Endocrinology, Case-Control Studies, Obesity, Abdominal, business, Biomarkers, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d4c1f8ddb87b7db58ab7f430acc62deTest
https://doi.org/10.1111/eci.12459Test -
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المصدر: Age and ageing. 36(5)
مصطلحات موضوعية: Aging, medicine.medical_specialty, Intra-Abdominal Fat, Population, Adipose tissue, Overweight, Body Mass Index, Insulin resistance, Risk Factors, Internal medicine, medicine, Dementia, Humans, Cognitive decline, education, education.field_of_study, business.industry, nutritional and metabolic diseases, General Medicine, medicine.disease, Endocrinology, Geriatrics and Gerontology, medicine.symptom, business, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938985d3c6cfeab00537e3b47aaf998fTest
https://pubmed.ncbi.nlm.nih.gov/17656423Test -
7Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
المؤلفون: Valeria A. Sansone, Hubert Kwieciński, Matthew R. Donaldson, Rabi Tawil, Ying-Hui Fu, Saïd Bendahhou, Anna Fidziańska, Martin Tristani-Firouzi, Judy L. Jensen, Louis J. Ptáček, Giovanni Meola, Nikki M. Plaster, Angelika Hahn
المساهمون: Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2002, xxx, pp.381-388مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Andersen Syndrome, Adolescent, Long QT syndrome, 030204 cardiovascular system & hematology, medicine.disease_cause, Article, Paralyses, Familial Periodic, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Andersen–Tawil syndrome, Internal medicine, medicine, Animals, Humans, cardiovascular diseases, Potassium Channels, Inwardly Rectifying, Child, 030304 developmental biology, 0303 health sciences, Mutation, business.industry, Kir2.1, Arrhythmias, Cardiac, Heart, Periodic paralysis, Cardiac action potential, Syndrome, General Medicine, Middle Aged, medicine.disease, 3. Good health, Electrophysiology, Long QT Syndrome, Endocrinology, cardiovascular system, Cardiology, Female, Rabbits, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f833d9ebf0d4c4c93da7fbd053af2cTest
https://hal.archives-ouvertes.fr/hal-00091062Test -
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المؤلفون: G. Meola, Valeria A. Sansone, G. Rotondo, Louis J. Ptáček
المصدر: Italian journal of neurological sciences. 15(9)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Myotonia Congenita, Nav1.4, Molecular Sequence Data, Dermatology, Sodium Channels, Hypokalemic periodic paralysis, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Muscle, Skeletal, Polymorphism, Genetic, biology, Base Sequence, Myotonia congenita, Electromyography, General Neuroscience, Skeletal muscle, Periodic paralysis, General Medicine, Middle Aged, medicine.disease, Myotonia, Pedigree, Psychiatry and Mental health, Endocrinology, medicine.anatomical_structure, Phenotype, Italy, Paramyotonia congenita, Mutation, biology.protein, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ce4b861e61a31559998d995e36d144Test
https://pubmed.ncbi.nlm.nih.gov/7721550Test