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1
المؤلفون: Valeria A. Sansone, Jeffrey Statland, Nicholas E. Johnson, Michael G. Hanna, Emma Ciafaloni, Fredric Cohen, Perry B Shieh, Robert C. Griggs
المصدر: Muscle & Nerve. 64:342-346
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Dichlorphenamide, Physiology, Placebo, Gastroenterology, Paralyses, Familial Periodic, Young Adult, Cellular and Molecular Neuroscience, Double-Blind Method, Physiology (medical), Internal medicine, Post-hoc analysis, medicine, Paralysis, Humans, Carbonic Anhydrase Inhibitors, Adverse effect, Aged, business.industry, Periodic paralysis, Middle Aged, medicine.disease, Discontinuation, Treatment Outcome, Tolerability, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa010f2a4628a0d1c664cee4191269bTest
https://doi.org/10.1002/mus.27354Test -
2
المؤلفون: Antony Amato, Michael P. McDermott, John T. Kissel, Patty C. Smith, Perry B. Shieh, Alan Pestronk, Jeffrey W. Ralph, Hiroshi Mitsumoto, Michael G. Hanna, Valeria A. Sansone, Shree Pandya, Emma Ciafaloni, Giovanni Meola, Brian A. Crum, J. Burge, Richard J. Barohn, Robert C. Griggs, Barbara E. Herr, Jaya Trivedi, Robin Conwit, Rabi Tawil, Steve C. Cannon
المصدر: Neurology. 86(15)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Dichlorphenamide, Gene mutation, Placebo, Hop (networking), law.invention, Paralyses, Familial Periodic, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, Double-Blind Method, law, Internal medicine, medicine, Humans, Adverse effect, Carbonic Anhydrase Inhibitors, business.industry, Periodic paralysis, Middle Aged, medicine.disease, Confidence interval, 030104 developmental biology, Physical therapy, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22881c497a843204f3b774341811859bTest
https://pubmed.ncbi.nlm.nih.gov/26865522Test -
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المؤلفون: Rabi Tawil, Valeria A. Sansone
المصدر: Neurotherapeutics. 4:233-237
مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, Neurology, Gating, Biology, medicine.disease_cause, Bioinformatics, Andersen–Tawil syndrome, Internal medicine, medicine, Animals, Humans, Pharmacology (medical), Potassium Channels, Inwardly Rectifying, Muscle, Skeletal, Andersen Syndrome, Pharmacology, Mutation, Skeletal muscle, Heart, Periodic paralysis, medicine.disease, Potassium channel, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, cardiovascular system, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d461453f53f83233b1cc48318d317f77Test
https://doi.org/10.1016/j.nurt.2007.01.005Test -
4
المؤلفون: Valeria A. Sansone, Giovanni Meola
المصدر: Europe PubMed Central
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Weakness, Potassium Channels, Genetic Linkage, Biopsy, DNA Mutational Analysis, Myotonic Disorder, Myotonic dystrophy type 2, Myotonic dystrophy, Ion Channels, Sodium Channels, Myotonia, Paralyses, Familial Periodic, Chloride Channels, Internal medicine, medicine, Humans, Myotonic Dystrophy, Muscle, Skeletal, business.industry, Muscle weakness, Periodic paralysis, DNA, medicine.disease, Surgery, body regions, Thyrotoxicosis, Neurology, Cardiology, Treatment strategy, Calcium Channels, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c79e1164d21b1a0ca1522f106fe86ea6Test
https://doi.org/10.1016/s0035-3787Test(04)71007-3 -
5
المؤلفون: S. J. Janas, Louis J. Ptáček, Giovanni Meola, Valeria A. Sansone, William A. Scott, Rabi Tawil, Wilson W. Bryan, N. Baker, Susan T. Iannaccone, Richard J. Barohn, D. Ririe, Robert C. Griggs
المصدر: Annals of Neurology. 42:305-312
مصطلحات موضوعية: medicine.medical_specialty, Andersen Syndrome, business.industry, Periodic paralysis, medicine.disease, QT interval, Hypokalemia, Endocrinology, Andersen–Tawil syndrome, Neurology, Channelopathy, Hypokalemic periodic paralysis, Internal medicine, medicine, Paralysis, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6c73af1de814838c14b0c68dd7862bffTest
https://doi.org/10.1002/ana.410420306Test -
6
المؤلفون: Michael R. Rose, Thera P. Links, M. Panzeri, Valeria A. Sansone, Giovanni Meola
المصدر: The Cochrane Library
Scopus-Elsevierمصطلحات موضوعية: medicine.medical_specialty, Weakness, Neuromuscular disease, Dichlorphenamide, Hypokalemic Periodic Paralysis, GENE SCN4A, Placebo, Hypokalemic periodic paralysis, ACETAZOLAMIDE, Internal medicine, ANDERSEN-TAWIL-SYNDROME, medicine, Paralysis, Humans, Pharmacology (medical), Hyperkalemic periodic paralysis, Carbonic Anhydrase Inhibitors, Randomized Controlled Trials as Topic, business.industry, MUTATIONS, Pinacidil, MUSCLE SODIUM-CHANNEL, Periodic paralysis, PARAMYOTONIA-CONGENITA, medicine.disease, WEAKNESS, Paramyotonia congenita, Physical therapy, medicine.symptom, business, MYOTONIA-CONGENITA, ALPHA-SUBUNIT, Paralysis, Hyperkalemic Periodic, BETA-ADRENERGIC TREATMENT
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9f20c40fe015e30e47f9eb068ae38e9Test
https://hdl.handle.net/11370/f826978a-88d3-4de2-ab1b-7fde7b98f277Test -
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 -
8
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
