المؤلفون: Enrico Bugiardini, Elena Passeri, Alessandro Pizzocaro, Cinzia Fulceri, Sabrina Corbetta, S. Borgato, Luca Persani, Giovanni Meola, Bruno Ambrosi, Valeria A. Sansone, Elena Costa, Francesco Bandera, Rea Valaperta

المصدر: European Journal of Clinical Investigation. 45:702-710

مصطلحات موضوعية: Adult, Anti-Mullerian Hormone, Male, endocrine system, medicine.medical_specialty, Waist, endocrine system diseases, Clinical Biochemistry, Intra-Abdominal Fat, Biochemistry, Absorptiometry, Photon, Interquartile range, Internal medicine, medicine, Humans, Insulin, Myotonic Dystrophy, Inhibins, In patient, Muscle Strength, Muscle, Skeletal, Testosterone, Subclinical infection, Sertoli Cells, Leydig cell, urogenital system, business.industry, Hypogonadism, Leydig Cells, Proteins, General Medicine, Middle Aged, Sertoli cell, female genital diseases and pregnancy complications, medicine.anatomical_structure, Endocrinology, Case-Control Studies, Obesity, Abdominal, business, Biomarkers, hormones, hormone substitutes, and hormone antagonists, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d4c1f8ddb87b7db58ab7f430acc62deTest
https://doi.org/10.1111/eci.12459Test

المؤلفون: Gabriele Mora, Christian Lunetta, Stanley H. Appel, Valeria A. Sansone, Robert G. Miller, Adriano Chiò, Andrea Lizio, Eleonora Maestri

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Population, Placebo, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Internal medicine, Post-hoc analysis, medicine, Humans, Immunologic Factors, Registries, Amyotrophic lateral sclerosis, education, Original Investigation, Aged, education.field_of_study, Amyotrophic Lateral Sclerosis, Biomarkers, C-Reactive Protein, Female, Follow-Up Studies, Middle Aged, Disease Progression, Neurology (clinical), biology, business.industry, Hazard ratio, C-reactive protein, medicine.disease, Surgery, 030104 developmental biology, Cohort, biology.protein, Biomarker (medicine), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75b0a4f16c49b6bf538bb6e2c0b94d15Test
http://hdl.handle.net/2318/1673187Test

المؤلفون: Giorgia Querin, Sonia Messina, Claudia Caponnetto, Amelia Conte, Gioacchino Tedeschi, Yuri Matteo Falzone, Gabriella Santangelo, Carlo Scialò, Christian Lunetta, Nicola Ticozzi, Adriano Chiò, Cristina Moglia, Andrea Calvo, Giancarlo Logroscino, Massimo Russo, Gabriele Mora, Paolo Volanti, Francesca Trojsi, Kalliopi Marinou, Gianni Sorarù, Nilo Riva, Valeria A. Sansone, Mario Sabatelli, Maria Rosaria Monsurrò, Jessica Mandrioli, Rosanna Tortelli, Gianluca Drago Ferrante, Mattia Siciliano, Barbara Poletti, Cinzia Femiano, Antonio Fasano

المساهمون: Trojsi, Francesca, Siciliano, Mattia, Femiano, Cinzia, Santangelo, Gabriella, Lunetta, Christian, Calvo, Andrea, Moglia, Cristina, Marinou, Kalliopi, Ticozzi, Nicola, Drago Ferrante, Gianluca, Scialã², Carlo, Sorarã¹, Gianni, Conte, Amelia, Falzone, Yuri M., Tortelli, Rosanna, Russo, Massimo, Sansone, Valeria Ada, Chiã², Adriano, Mora, Gabriele, Poletti, Barbara, Volanti, Paolo, Caponnetto, Claudia, Querin, Giorgia, Sabatelli, Mario, Riva, Nilo, Logroscino, Giancarlo, Messina, Sonia, Fasano, Antonio, Monsurrã², Maria Rosaria, Tedeschi, Gioacchino, Mandrioli, Jessica

مصطلحات موضوعية: Male, medicine.medical_specialty, Neurology, Survival, Amyotrophic lateral sclerosis, Clinical phenotype, Dementia, Comorbidity, Kaplan-Meier Estimate, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Female, Humans, Italy, Neurology (clinical), 030212 general & internal medicine, Family history, Amyotrophic lateral sclerosi, Survival analysis, business.industry, medicine.disease, Settore MED/26 - NEUROLOGIA, Cohort, Physical therapy, business, 030217 neurology & neurosurgery, Frontotemporal dementia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76dafa9ba5f05ca8717e3aee22b3ca0dTest
http://hdl.handle.net/11570/3134774Test

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

المؤلفون: Enrico Bugiardini, Elena Passeri, Valeria A. Sansone, Elena Costa, Bruno Ambrosi, Rea Valaperta, Sabrina Corbetta, Giovanni Meola

المصدر: Journal of the Neurological Sciences. 331:132-135

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, medicine.medical_specialty, Statistics as Topic, Parathyroid hormone, Severity of Illness Index, Myotonic dystrophy, Statistics, Nonparametric, vitamin D deficiency, Body Mass Index, Parathyroid Glands, Internal medicine, Vitamin D and neurology, Humans, Myotonic Dystrophy, Medicine, Vitamin D, Muscle, Skeletal, Hyperparathyroidism, business.industry, Middle Aged, Vitamin D Deficiency, medicine.disease, Endocrinology, Neurology, Parathyroid Hormone, Hyperparathyroidism, Secondary, Secondary hyperparathyroidism, Neurology (clinical), business, Primary hyperparathyroidism, Hypophosphatemia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e82d9ff08697eebc9b5e302cfc4021Test
https://doi.org/10.1016/j.jns.2013.06.008Test

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

المؤلفون: Antony Amato, Michael P. McDermott, John T. Kissel, Patty C. Smith, Perry B. Shieh, Alan Pestronk, Jeffrey W. Ralph, Hiroshi Mitsumoto, Michael G. Hanna, Valeria A. Sansone, Shree Pandya, Emma Ciafaloni, Giovanni Meola, Brian A. Crum, J. Burge, Richard J. Barohn, Robert C. Griggs, Barbara E. Herr, Jaya Trivedi, Robin Conwit, Rabi Tawil, Steve C. Cannon

المصدر: Neurology. 86(15)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Dichlorphenamide, Gene mutation, Placebo, Hop (networking), law.invention, Paralyses, Familial Periodic, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, Double-Blind Method, law, Internal medicine, medicine, Humans, Adverse effect, Carbonic Anhydrase Inhibitors, business.industry, Periodic paralysis, Middle Aged, medicine.disease, Confidence interval, 030104 developmental biology, Physical therapy, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22881c497a843204f3b774341811859bTest
https://pubmed.ncbi.nlm.nih.gov/26865522Test

المؤلفون: Elena Passeri, Sabrina Corbetta, Marco Mendola, Valeria A. Sansone, Chiara Verdelli

المصدر: Neuromuscular Disorders. 24:365-367

مصطلحات موضوعية: musculoskeletal diseases, endocrine system, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Myotonia Congenita, endocrine system diseases, Hormone Replacement Therapy, DNA Mutational Analysis, Muscle disorder, Asymptomatic, Diagnosis, Differential, Young Adult, Hypothyroidism, Channelopathy, Chloride Channels, Internal medicine, medicine, Humans, Genetics (clinical), CLCN1, biology, Myotonia congenita, business.industry, Skeletal muscle, medicine.disease, Myotonia, body regions, Thyroxine, Endocrinology, medicine.anatomical_structure, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), medicine.symptom, Thyroid function, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63da7ef162127cb9a4549dc1d44ae08eTest
https://doi.org/10.1016/j.nmd.2014.01.006Test

المؤلفون: L. Lin, Emma Ciafaloni, Lynn Liu, Xiaoyan Lin, Charles A. Thornton, Valeria A. Sansone, Michael L. Perlis, Emmanuel Mignot, Wilfred R. Pigeon, James E. Hilbert

المصدر: Neurology. 70:226-230

مصطلحات موضوعية: Adult, Genetic Markers, Male, Receptors, Neuropeptide, Sleep Wake Disorders, musculoskeletal diseases, Multiple Sleep Latency Test, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Polysomnography, DNA Mutational Analysis, Radioimmunoassay, Excessive daytime sleepiness, Comorbidity, Myotonic dystrophy, Receptors, G-Protein-Coupled, Cohort Studies, Orexin Receptors, Internal medicine, medicine, Humans, Myotonic Dystrophy, Genetic Predisposition to Disease, Prospective Studies, Aged, Temporal cortex, Orexins, medicine.diagnostic_test, business.industry, Neuropeptides, Intracellular Signaling Peptides and Proteins, Middle Aged, medicine.disease, Myotonia, Orexin receptor, Alternative Splicing, Endocrinology, Mutation, Female, Neurology (clinical), medicine.symptom, business, Narcolepsy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abf01bd2a9ec27982bdeb068d1001afTest
https://doi.org/10.1212/01.wnl.0000296827.20167.98Test

المؤلفون: Rabi Tawil, Valeria A. Sansone

المصدر: Neurotherapeutics. 4:233-237

مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, Neurology, Gating, Biology, medicine.disease_cause, Bioinformatics, Andersen–Tawil syndrome, Internal medicine, medicine, Animals, Humans, Pharmacology (medical), Potassium Channels, Inwardly Rectifying, Muscle, Skeletal, Andersen Syndrome, Pharmacology, Mutation, Skeletal muscle, Heart, Periodic paralysis, medicine.disease, Potassium channel, Disease Models, Animal, medicine.anatomical_structure, Endocrinology, cardiovascular system, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d461453f53f83233b1cc48318d317f77Test
https://doi.org/10.1016/j.nurt.2007.01.005Test