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المؤلفون: G. Meola, Simona Villani, Francesco Bandera, Valeria A. Sansone, L. De Ambroggi, Elisa Brigonzi, G. De Ambroggi, Maddalena Gaeta, Benedikt Schoser
المصدر: International Journal of Cardiology. 168:1147-1153
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Time Factors, Adolescent, Myotonic dystrophy type 2, Severity of Illness Index, Sudden cardiac death, Cohort Studies, Young Adult, 2d echocardiography, Germany, Internal medicine, medicine, Long term outcomes, Humans, Myotonic Dystrophy, Muscle Strength, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Muscle weakness, Arrhythmias, Cardiac, Middle Aged, medicine.disease, Patient population, Treatment Outcome, Italy, Cardiology, Muscle strength, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Holter monitoring, Follow-Up Studies, Myotonic Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12421436d5803626c975241f51e558e2Test
https://doi.org/10.1016/j.ijcard.2012.11.076Test -
22Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2
المؤلفون: Olayinka Raheem, Laura Valentina Renna, Fabrizio Rinaldi, Annalisa Botta, Enrico Bugiardini, Bjarne Udd, Giovanni Meola, Valeria A. Sansone, Giuseppe Novelli, Rosanna Cardani, Sini Penttilä, Alessandra Morgante, M. Giagnacovo, Tiina Suominen
المصدر: Journal of Neurology. 259:2090-2099
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, Biology, medicine.disease_cause, Fluorescence, chemistry.chemical_compound, Chloride Channels, Internal medicine, medicine, Myotonic Dystrophy, Humans, MBNL1, Age of Onset, Muscular dystrophy, Muscle, Skeletal, Southern, In Situ Hybridization, Fluorescence, In Situ Hybridization, Southern blot, Mutation, CLCN1, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Blotting, Myotonia congenita, RNA-Binding Proteins, Skeletal, Middle Aged, medicine.disease, Myotonia, Myotonic Disorders, Blotting, Southern, Immunohistochemistry, Female, Endocrinology, Settore MED/03 - Genetica Medica, Neurology, chemistry, biology.protein, Muscle, Neurology (clinical), Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85876aef4afc8bb8fe0cdc0a6d64db13Test
https://doi.org/10.1007/s00415-012-6462-1Test -
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المؤلفون: Valeria A. Sansone, Eleonora Corti, Marzia Lecchi, Francesca Magri, Domenica Saccomanno, Stefania Corti, Monika Raimondi, Giacomo P. Comi, Enzo Wanke, Giovanni Meola, Grazia D'Angelo, Elisa Redaelli, Sabrina Lucchiari, Anna Modoni, Gianna Ulzi, Serena Pagliarani, Nereo Bresolin
المساهمون: Ulzi, G, Lecchi, M, Sansone, V, Redaelli, E, Corti, E, Saccomanno, D, Pagliarani, S, Corti, S, Magri, F, Raimondi, M, D'Angelo, G, Modoni, A, Bresolin, N, Meola, G, Wanke, E, Comi, G, Lucchiari, S
مصطلحات موضوعية: Adult, Male, Patch-Clamp Techniques, Adolescent, Myotonia Congenita, Mutation, Missense, Muscle disorder, Cell Line, Young Adult, Channelopathy, Chloride Channels, BIO/09 - FISIOLOGIA, medicine, Humans, Repolarization, Genetic Predisposition to Disease, Child, Aged, Genetics, CLCN1, biology, Myotonia congenita, Cell Membrane, Electric Conductivity, Skeletal muscle, Middle Aged, medicine.disease, Molecular biology, Resting potential, Muscle relaxation, medicine.anatomical_structure, Italy, Neurology, biology.protein, Female, Neurology (clinical), Skeletal muscle, Channelopathy, CLCN1 gene, Myotonia congenita, Thomsen's disease, Becker's generalized myotonia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d5e2eb0c92a0d15a0920cb68d6a8bTest
http://hdl.handle.net/10281/32847Test -
24Functional 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 -
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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 -
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المؤلفون: Charles A. Thornton, Stefano F. Cappa, A. Colleluori, Daniela Perani, F. Fazio, Richard T. Moxley, Maria Cotelli, Valeria A. Sansone, Giovanni Meola
المساهمون: Meola, G, Sansone, V, Perani, D, Colleluori, A, Cappa, S, Cotelli, M, Fazio, F, Thornton, C, Moxley, R, Meola, G., Sansone, V., Perani, DANIELA FELICITA L., Colleluori, A., Cappa, STEFANO FRANCESCO, Cotelli, M., Fazio, F., Thornton, C. A., Moxley, R. T.
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Hemodynamics, Neuropsychological Tests, Myotonic dystrophy, Proximal myotonic myopathy, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, medicine, Humans, Myotonic Dystrophy, 030304 developmental biology, Aged, 0303 health sciences, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, Middle Aged, Myotonia, medicine.disease, Magnetic Resonance Imaging, Cerebral blood flow, Cerebrovascular Circulation, Space Perception, Visual Perception, Neuropsychological Test, Female, Neurology (clinical), business, Perfusion, 030217 neurology & neurosurgery, Human, Tomography, Emission-Computed
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3487560b0554d5374aa1d7fbb46d69dfTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033595470&partnerID=MN8TOARSTest