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41
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 -
42
المؤلفون: Arturo Brunetti, Giuseppe De Michele, Imma Castaldo, Sabina Pappatà, Maria Teresa Pellecchia, Marco Salvatore, Elena Salvatore, Valeria A. Sansone, Andrea Varrone, Giovanni Coppola, Alessandro Filla, Paolo Barone
المصدر: Annals of Neurology. 55:426-430
مصطلحات موضوعية: medicine.medical_specialty, Cerebellar ataxia, biology, business.industry, Putamen, Parkinsonism, Substantia nigra, medicine.disease, Central nervous system disease, Endocrinology, Degenerative disease, nervous system, Neurology, Internal medicine, mental disorders, medicine, biology.protein, Spinocerebellar ataxia, Neurology (clinical), medicine.symptom, business, Neuroscience, Dopamine transporter
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::57cf60f7f7469fa31ce1c56a8ca825d6Test
https://doi.org/10.1002/ana.20054Test -
43
المؤلفون: Richard T. Moxley, Maria Cotelli, Charles A. Thornton, Giovanni Meola, L. De Ambroggi, K. Marinou, Valeria A. Sansone
المصدر: Journal of the Neurological Sciences. 193:89-96
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cardiac conduction disturbances, Heart disease, Myotonic dystrophy, Proximal myotonic myopathy, Electrocardiography, Heart Conduction System, Internal medicine, Humans, Myotonic Dystrophy, Medicine, Muscle Weakness, medicine.diagnostic_test, business.industry, Muscle weakness, Arrhythmias, Cardiac, Middle Aged, Right bundle branch block, Prognosis, medicine.disease, Myotonia, Surgery, Neurology, Echocardiography, Disease Progression, Cardiology, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b47324d52afe4d96c4237afc3f447dTest
https://doi.org/10.1016/s0022-510xTest(01)00649-9 -
44
المؤلفون: Richard T. Moxley, Robert C. Griggs, Valeria A. Sansone
المصدر: Neuromuscular Disorders. 10:165-172
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Asymptomatic, Myotonic dystrophy, Proximal myotonic myopathy, Diagnosis, Differential, Hypothyroidism, Cataracts, Internal medicine, Hypothyroid myopathy, medicine, Humans, Euthyroid, Genetics (clinical), Aged, business.industry, Myotonia, medicine.disease, Pedigree, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Proximal weakness, Female, Neurology (clinical), medicine.symptom, business, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc32bbcbaeb19fdb14444baf0a336b59Test
https://doi.org/10.1016/s0960-8966Test(99)00097-8 -
45
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 -
46
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 -
47
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 -
48Functional 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 -
49
المؤلفون: M. Panzeri, Francesco Sardanelli, Guido De Ambroggi, A. Zanolini, Riccardo Cappato, Luigi De Ambroggi, Valeria A. Sansone, Giovanni Meola
المصدر: Europace. 11:1243-1244
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Long term follow up, Resuscitation, Population, Myotonic dystrophy, Sudden cardiac death, Recurrence, Physiology (medical), Internal medicine, Humans, Myotonic Dystrophy, Medicine, education, education.field_of_study, business.industry, Incidence (epidemiology), medicine.disease, Heart Arrest, Treatment Outcome, Ventricular Fibrillation, Ventricular fibrillation, cardiovascular system, Cardiology, Cardiology and Cardiovascular Medicine, business, Resuscitated Cardiac Arrest, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ffb60e9656590ac8d1f8823402269d2Test
https://doi.org/10.1093/europace/eup155Test -
50
المصدر: Neuromuscular disorders : NMD. 6(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Proximal muscle weakness, Genetic Linkage, Biology, Myotonic dystrophy, Cataract, Proximal myotonic myopathy, Myotonia, Trinucleotide Repeats, Internal medicine, medicine, Humans, Age of Onset, Genetics (clinical), Aged, Muscle biopsy, medicine.diagnostic_test, Hypogonadism, Muscle weakness, Neuromuscular Diseases, Syndrome, Middle Aged, medicine.disease, Endocrinology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Anticipation (genetics), Female, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0d086dc83a840bfda0535b7bfd08f7Test
https://pubmed.ncbi.nlm.nih.gov/8784800Test
