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المؤلفون: Vinojini Vivekanandam, Roope Männikkö, Iwona Skorupinska, Louise Germain, Belinda Gray, Sarah Wedderburn, Damian Kozyra, Richa Sud, Natalie James, Sarah Holmes, Konstantinos Savvatis, Doreen Fialho, Ashirwad Merve, Jatin Pattni, Maria Farrugia, Elijah R Behr, Chiara Marini-Bettolo, Michael G Hanna, Emma Matthews
المصدر: Brain. 145:2108-2120
مصطلحات موضوعية: Andersen Syndrome, Electrocardiography, Phenotype, Mutation, Humans, Genetic Testing, Neurology (clinical), Morbidity
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b9cecda6fd9df64264ca0885fddd89cTest
https://doi.org/10.1093/brain/awab445Test -
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المؤلفون: Dimitri M. Kullmann, Mary G. Sweeney, Andrea Haworth, Richa Sud, S. McCall, Roope Männikkö, K. Suetterlin, Dipa Jayaseelan, Emma Matthews, James Burge, Stephanie Schorge, Doreen Fialho, Michael G. Hanna
المصدر: Brain. 145:607-620
مصطلحات موضوعية: Proband, CLCN1, Myotonia Congenita, biology, Myotonia congenita, Genetic counseling, Inheritance (genetic algorithm), Computational biology, medicine.disease, Myotonia, Phenotype, Chloride Channels, Mutation, biology.protein, medicine, Humans, Neurology (clinical), Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76a7b88fa5905d1062ef0d1c63167a0Test
https://doi.org/10.1093/brain/awab344Test -
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المؤلفون: Emma Matthews, Sarah Holmes, Doreen Fialho
المصدر: Practical Neurology. 21:196-204
مصطلحات موضوعية: medicine.medical_specialty, Paralyses, Familial Periodic, Sudden cardiac death, Pharmacological treatment, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Channelopathy, medicine, Humans, 030212 general & internal medicine, Muscle, Skeletal, Intensive care medicine, business.industry, Skeletal muscle, General Medicine, medicine.disease, Clinical neurology, Muscle disease, medicine.anatomical_structure, Quality of Life, Channelopathies, Neurology (clinical), business, 030217 neurology & neurosurgery, Myotonic Disorders
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef753da6f0ef84d300beeffc90054b0Test
https://doi.org/10.1136/practneurol-2020-002576Test -
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المؤلفون: Emma Matthews, Michael G. Hanna, Jasper M. Morrow, I Skorupinska, Doreen Fialho, S. Veronica Tan, K. Suetterlin, Ana Ribeiro
المصدر: MusclenerveREFERENCES. 65(5)
مصطلحات موضوعية: 2019-20 coronavirus outbreak, medicine.medical_specialty, Physiology, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Hypokalemic Periodic Paralysis, Context (language use), Muscular Dystrophies, Paralyses, Familial Periodic, Cellular and Molecular Neuroscience, Physiology (medical), Internal medicine, medicine, Humans, Paralysis, In patient, Exercise, business.industry, Periodic paralysis, medicine.disease, Test (assessment), Phenotype, Cohort, Mann–Whitney U test, Exercise Test, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336659ebf4888f41c4f88fc2701f849dTest
https://pubmed.ncbi.nlm.nih.gov/35064932Test -
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المؤلفون: Vinojini Vivekanandam, Roope Mannikko, Doreen Fialho, A Merve, J Pattni, C Marini-Bettolo, K Savvatis, ER Behr, Michael Hanna, Emma Matthews
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 93:A95.2-A95
مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9c30b4e2c404305afc096618b944a9bbTest
https://doi.org/10.1136/jnnp-2022-abn.308Test -
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المؤلفون: Vino Vivekanandam, Natalie James, Roope Männikkö, Richa Sud, Emma Matthews, Doreen Fialho, Enrico Flossmann, Kostas Savvatis, Michael G. Hanna, Thomas D Gossios, K. Suetterlin
المصدر: Journal of neuromuscular diseases. 8(1)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Delayed Diagnosis, Ventricular Tachyarrhythmias, Heart block, Sudden cardiac death, 03 medical and health sciences, 0302 clinical medicine, Andersen–Tawil syndrome, Internal medicine, Medicine, Humans, Atrioventricular Block, Andersen Syndrome, Kcnj2 gene, business.industry, Cardiac arrhythmia, Muscle weakness, Periodic paralysis, medicine.disease, 030104 developmental biology, Neurology, cardiovascular system, Cardiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6930285ca512411e60e8a3fa9f80783Test
https://pubmed.ncbi.nlm.nih.gov/33074188Test -
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المصدر: Cochrane Database of Systematic Reviews.
مصطلحات موضوعية: medicine.medical_specialty, Toxic neuropathy, business.industry, Internal medicine, Human immunodeficiency virus (HIV), medicine, Pharmacology (medical), Disease, medicine.disease_cause, medicine.disease, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fab1fb3d023d3d8fc9f27d45f154dac1Test
https://doi.org/10.1002/14651858.cd013716Test -
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المؤلفون: Emma Matthews, Doreen Fialho, Nantaporn Jitpimolmard
المصدر: Current Treatment Options in Neurology
مصطلحات موضوعية: medicine.medical_specialty, Paramyotonia congenita, Lamotrigine, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Channelopathy, Mexiletine, medicine, Intensive care medicine, Myotonia congenita, Safinamide, Neuromuscular Disorders (C Fournier, Section Editor), Andersen-Tawil syndrome, business.industry, Periodic paralysis, medicine.disease, Myotonia, 3. Good health, chemistry, 030220 oncology & carcinogenesis, Neurology (clinical), business, 030217 neurology & neurosurgery, Sodium channel myotonia, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef7d28cc50f2631ff77a1bd5b1ee08bfTest
https://pubmed.ncbi.nlm.nih.gov/32848354Test -
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المؤلفون: Vinojini Vivekanandam, K. Suetterlin, N. James, Emma Matthews, Richa Sud, Michael G. Hanna, Doreen Fialho, Sarah J. Holmes
المصدر: Neurology: Clinical Practice
article-version (Version of Record) 3مصطلحات موضوعية: medicine.medical_specialty, urogenital system, business.industry, Renal ultrasound, Case, urologic and male genital diseases, Ureteric obstruction, female genital diseases and pregnancy complications, medicine, Neurology (clinical), Radiology, Presentation (obstetrics), business, Acetazolamide, human activities, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::545b6dec068efc05d0c667672778c121Test
https://doi.org/10.1212/cpj.0000000000000761Test -
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المؤلفون: Jatin Pattni, Vinojini Vivekanandam, Emma Matthews, Doreen Fialho, Konstantinos Savvitis, Michael G. Hanna
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 90:e56.1-e56
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Cardiomyopathy, Periodic paralysis, medicine.disease, Phenotype, Very frequent, Fasciculation, Psychiatry and Mental health, Channelopathy, Internal medicine, Cohort, medicine, Cardiology, Palpitations, Surgery, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b1d0fd387ca18551ada6c9ff1ef8f81dTest
https://doi.org/10.1136/jnnp-2019-abn-2.188Test