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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: 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: 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 -
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المؤلفون: Paul Riordan-Eva, Paul Holmes, Doreen Fialho, Eli Silber
المصدر: Practical Neurology. 2:358-361
مصطلحات موضوعية: Past medical history, medicine.medical_specialty, Mini–Mental State Examination, Photophobia, medicine.diagnostic_test, business.industry, General Medicine, Audiology, medicine.disease, Gait, Dysarthria, medicine, Physical therapy, Neurology (clinical), medicine.symptom, Ataxic Gait, business, Myoclonus, Susac's syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cfa1a4d38b92d06c56b36aca9dbcc87aTest
https://doi.org/10.1046/j.1474-7766.2002.00097.xTest -
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المؤلفون: Richa Sud, M D Davis, J. Burge, A Haworth, Antonio Toscano, D.L. Raja Rayan, E. Matthews, Michael G. Hanna, Doreen Fialho, Simona Portaro
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 83:e1.124-e1
مصطلحات موضوعية: Genetics, CLCN1, Mutation, genetic structures, biology, Myotonia congenita, business.industry, Point mutation, medicine.disease_cause, Myotonia, medicine.disease, eye diseases, Psychiatry and Mental health, Channelopathy, biology.protein, medicine, Surgery, sense organs, Neurology (clinical), Copy-number variation, Multiplex ligation-dependent probe amplification, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b55bfd14815fe3800a8d587729fab40Test
https://doi.org/10.1136/jnnp-2011-301993.21Test