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1دورية أكاديمية
المؤلفون: Statland, Jeffrey M, Fontaine, Bertrand, Hanna, Michael G, Johnson, Nicholas E, Kissel, John T, Sansone, Valeria A, Shieh, Perry B, Tawil, Rabi N, Trivedi, Jaya, Cannon, Stephen C, Griggs, Robert C
المصدر: Muscle & Nerve. 57(4)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Prevention, Nutrition, Genetics, Rare Diseases, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Acetazolamide, Andersen Syndrome, Anti-Arrhythmia Agents, Behavior Therapy, Carbonic Anhydrase Inhibitors, Diuretics, Diuretics, Potassium Sparing, Humans, Hydrochlorothiazide, Hypokalemic Periodic Paralysis, Paralyses, Familial Periodic, Paralysis, Hyperkalemic Periodic, Potassium, acetazolamide, Andersen-Tawil syndrome, channelopathies, dichlorphenamide, periodic paralyses, review, treatment, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/0d47m060Test
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2دورية أكاديمية
المؤلفون: Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Pruszczyk, Piotr, Bieganowska, Katarzyna, Miszczak-Knecht, Maria, Bienias, Piotr, Szczałuba, Krzysztof, Lee, Hsien-Yang, Quinn, Emily, Ploski, Rafal, Kaminska, Anna, Ptáček, Louis J
المصدر: Muscle & nerve. 51(2)
مصطلحات موضوعية: Humans, Paralyses, Familial Periodic, Heart Diseases, Genetic Predisposition to Disease, Potassium Channels, Inwardly Rectifying, Echocardiography, Retrospective Studies, Longitudinal Studies, DNA Mutational Analysis, Defibrillators, Implantable, Mutation, Adolescent, Adult, Child, Poland, Female, Male, Andersen Syndrome, Young Adult, KCNJ2, channelopathy, long QT, periodic paralysis, ventricular arrhythmia, Paralyses, Familial Periodic, Potassium Channels, Inwardly Rectifying, Defibrillators, Implantable, Neurology & Neurosurgery, Medical and Health Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/68p3j41vTest
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3دورية أكاديمية
المؤلفون: Sansone, Valeria A, Burge, James, McDermott, Michael P, Smith, Patty C, Herr, Barbara, Tawil, Rabi, Pandya, Shree, Kissel, John, Ciafaloni, Emma, Shieh, Perry, Ralph, Jeffrey W, Amato, Antony, Cannon, Steve C, Trivedi, Jaya, Barohn, Richard, Crum, Brian, Mitsumoto, Hiroshi, Pestronk, Alan, Meola, Giovanni, Conwit, Robin, Hanna, Michael G, Griggs, Robert C
المصدر: Neurology. 86(15)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Adult, Carbonic Anhydrase Inhibitors, Dichlorphenamide, Double-Blind Method, Female, Follow-Up Studies, Humans, Male, Middle Aged, Paralyses, Familial Periodic, Muscle Study Group, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/50d5s4z9Test
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4دورية أكاديمية
المؤلفون: Abbott, Geoffrey W, Butler, Margaret H, Goldstein, Steve AN
المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 20(2)
مصطلحات موضوعية: Cell Line, Animals, Humans, Paralyses, Familial Periodic, Genetic Predisposition to Disease, Protons, Potassium Channels, Voltage-Gated, Ion Channel Gating, Binding Sites, Amino Acid Sequence, Conserved Sequence, Protein Structure, Tertiary, Phosphorylation, Mutation, Molecular Sequence Data, Cricetinae, Shaw Potassium Channels, KCNE3, periodic paralysis, MiRP2, Kv3.4, Paralyses, Familial Periodic, Potassium Channels, Voltage-Gated, Protein Structure, Tertiary, Neurosciences, Biochemistry & Molecular Biology, Biochemistry and Cell Biology, Physiology, Medical Physiology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1bx6c0n7Test
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5دورية أكاديمية
المؤلفون: Abbott, GW, Butler, MH, Bendahhou, S, Dalakas, MC, Ptacek, LJ, Goldstein, SA
المصدر: Cell. 104(2)
مصطلحات موضوعية: Muscle, Skeletal, Oocytes, Cell Line, Cell Membrane, Chromosomes, Human, Pair 11, Animals, Xenopus laevis, Humans, Mice, Rats, Paralyses, Familial Periodic, Xenopus Proteins, Potassium Channels, Potassium Channels, Voltage-Gated, Protein Subunits, Cnidarian Venoms, Immunohistochemistry, Patch-Clamp Techniques, Chromosome Mapping, Pedigree, Electrophysiology, Membrane Potentials, Mutation, Missense, Female, Cricetinae, Male, Shaw Potassium Channels, Muscle, Skeletal, Chromosomes, Human, Pair 11, Paralyses, Familial Periodic, Voltage-Gated, Mutation, Missense, Genetics, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4bx5x324Test
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6
المؤلفون: Islander, Gunilla, Jungner, Mårten
المصدر: Läkartidningen. 102(8):71-566
مصطلحات موضوعية: Muscular Dystrophies: complications, Muscular Dystrophies: genetics, Muscular Dystrophies: surgery, Neuromuscular Depolarizing Agents: adverse effects, Neuromuscular Depolarizing Agents: contraindications, Intraoperative, Paralyses, Risk Factors, Succinylcholine: adverse effects, Succinylcholine: contraindications, Familial Periodic: complications, Postoperative Complications: chemically induced, Postoperative Complications: etiology, Postoperative Complications: prevention & control, Practice Guidelines, Familial Periodic: surgery, Familial Periodic: genetics, Inhalation: contraindications, Humans, Malignant Hyperthermia: complications, Malignant Hyperthermia: genetics, Malignant Hyperthermia: surgery, Malignant Hyperthermia: therapy, Monitoring, Inhalation: adverse effects, Anesthetics, General: methods, General: adverse effects, Anesthesia, Medicin och hälsovetenskap, Klinisk medicin, Anestesi och intensivvård, Medical and Health Sciences, Clinical Medicine, Anesthesiology and Intensive Care
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7دورية أكاديمية
المؤلفون: Meng-yu ZHANG, Yan XU, Jian-zhong SHEN, Yin-chang YANG, Bin PENG, Li-ying CUI
المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 17, Iss 7, Pp 546-549 (2017)
مصطلحات موضوعية: Andersen-Tawil syndrome (not in MeSH), Paralyses, familial periodic, Case reports, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Vicino, A., Brugnoni, R., Maggi, L.
المصدر: Expert review of molecular diagnostics, vol. 23, no. 12, pp. 1175-1193
مصطلحات موضوعية: Humans, Myotonia/diagnosis, Myotonia/genetics, Channelopathies/diagnosis, Channelopathies/genetics, Muscle, Skeletal, Myotonic Disorders/genetics, Paralyses, Familial Periodic, Mutation, Paralysis, CLCN1, KCNJ2, KCNJ5, Non-dystrophic myotonia, periodic paralysis, RYR1 genes, SCN4A
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38009256; info:eu-repo/semantics/altIdentifier/eissn/1744-8352; https://serval.unil.ch/notice/serval:BIB_0E1B52861E28Test; urn:issn:1473-7159
الإتاحة: https://doi.org/10.1080/14737159.2023.2288258Test
https://serval.unil.ch/notice/serval:BIB_0E1B52861E28Test -
9دورية أكاديمية
المؤلفون: Stuart J, David B, James P, Jennifer M, Christopher J
المصدر: The Journal of the Royal College of Physicians of Edinburgh, Vol 49, Iss 3, Pp 255-259 (2019)
مصطلحات موضوعية: familial periodic paralysis, history of neurology, Mary Walker, myasthenia gravis, Prostigmin, Medicine (General), R5-920
العلاقة: https://www.rcpe.ac.uk/college/journal/mary-walker-effect-mary-broadfoot-walkerTest; https://doaj.org/toc/1478-2715Test; https://doaj.org/toc/2042-8189Test; https://doaj.org/article/3ac31fe3063646739f20527657d72d6cTest
الإتاحة: https://doi.org/10.4997/JRCPE.2019.317Test
https://doaj.org/article/3ac31fe3063646739f20527657d72d6cTest -
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المؤلفون: J. Sun, S. Luo, K.J. Suetterlin, J. Song, J. Huang, W. Zhu, J. Xi, L. Zhou, J. Lu, C. Zhao, M.G. Hanna, R. Männikkö, E. Matthews, K. Qiao
المصدر: Neuromuscular Disorders. 31:829-838
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, medicine.medical_specialty, Genotype, Gene mutation, Asymptomatic, Myotonia, Paralyses, Familial Periodic, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Asian People, Hypokalemic periodic paralysis, Surveys and Questionnaires, Internal medicine, medicine, Paralysis, Humans, Hyperkalemic periodic paralysis, NAV1.4 Voltage-Gated Sodium Channel, Genetics (clinical), Retrospective Studies, Electromyography, business.industry, Periodic paralysis, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Neurology, Paramyotonia congenita, Mutation, Pediatrics, Perinatology and Child Health, Channelopathies, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5c22738bcd189e40f56691d3999de55Test
https://doi.org/10.1016/j.nmd.2021.03.014Test