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المؤلفون: Valeria A. Sansone, Andrea Barp, Christian Lunetta, Andrea Lizio, Luca Mauro, Francesca Gerardi, Claudia Tarlarini
المصدر: Clinical Neurophysiology. 132:1564-1571
مصطلحات موضوعية: Male, Oncology, Vital capacity, medicine.medical_specialty, Vital Capacity, Neural Conduction, 050105 experimental psychology, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, Physiology (medical), Internal medicine, Outcome Assessment, Health Care, medicine, Humans, 0501 psychology and cognitive sciences, In patient, Amyotrophic lateral sclerosis, Aged, medicine.diagnostic_test, Electromyography, business.industry, Amyotrophic Lateral Sclerosis, 05 social sciences, Disease progression, Outcome measures, Middle Aged, Neurophysiology, medicine.disease, Sensory Systems, Cross-Sectional Studies, Neurology, Disease Progression, Nerve conduction study, Female, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e13bde8be9467f93c88b275fa8aa6c2Test
https://doi.org/10.1016/j.clinph.2021.02.394Test -
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المؤلفون: Valeria A. Sansone, Giorgia Brigati, Adele D'Amico, Eugenio Mercuri, Daniela Leone, Emilio Albamonte, Maria Sframeli, Chiara Bravetti, Beatrice Berti, Sonia Messina, Concetta Palermo, Francesco Danilo Tiziano, Giorgia Coratti, Claudio Bruno, Francesca Salmin, Michela Catteruccia, Marco Piastra, Maria Carmela Pera, Gianluca Vita, Marika Pane, Paola Tacchetti, Marina Pedemonte, Enrico Bertini, Roberto De Sanctis, Simona Lucibello, Orazio Genovese
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 548-557 (2021)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Adolescent, Outcome Assessment, Oligonucleotides, Neurological examination, Neurosciences. Biological psychiatry. Neuropsychiatry, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Outcome Assessment, Health Care, medicine, Humans, RC346-429, Child, Preschool, Research Articles, spinal muscular atrophy, medicine.diagnostic_test, business.industry, General Neuroscience, Child, Preschool, Follow-Up Studies, Infant, Survival of Motor Neuron 2 Protein, Repeated measures design, Spinal muscular atrophy, medicine.disease, SMA, Natural history, Health Care, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Long term data, Nusinersen, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery, Research Article, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e14061f27a5a65a5c95aae2d46ace23Test
http://hdl.handle.net/11570/3220978Test -
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المؤلفون: Jeffrey Statland, W. David Arnold, Giovanni Meola, Michael G. Hanna, Samantha LoRusso, Baziel G.M. van Engelen, Stephen C. Cannon, Emma Matthews, Valeria A. Sansone, Jaya Trivedi, Bertrand Fontaine, Bas C. Stunnenberg, Richard J. Barohn, Robert C. Griggs, Savine Vicart
المساهمون: Gestionnaire, HAL Sorbonne Université 5, Radboud University Medical Center [Nijmegen], Ohio State University [Columbus] (OSU), University of Kansas Medical Center [Kansas City, KS, USA], David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California (UC)-University of California (UC), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), University of Rochester Medical Center (URMC), Institute of Neurology [London], University College of London [London] (UCL), Università degli Studi di Milano = University of Milan (UNIMI), University of Texas Southwestern Medical Center [Dallas], University of Kansas Medical Center [Lawrence], University of California-University of California, Centre de Recherche en Myologie, University of Milan
المصدر: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 2020, 62 (4), pp.430-444. ⟨10.1002/mus.26887⟩
Muscle Nerve
Muscle and Nerve, 62, 4, pp. 430-444
Muscle and Nerve, 62, 430-444مصطلحات موضوعية: 0301 basic medicine, Physiology, Electromyography, 030105 genetics & heredity, 0302 clinical medicine, Ranolazine, Age of Onset, NAV1.4 Voltage-Gated Sodium Channel, Carbonic Anhydrase Inhibitors, Fatigue, Voltage-Gated Sodium Channel Blockers, Muscle Weakness, biology, medicine.diagnostic_test, Electrodiagnosis, skeletal muscle channelopathies, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Muscle relaxation, Paramyotonia congenita, Practice Guidelines as Topic, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, myotonia congenita, management, medicine.drug, Myotonic Disorders, Sodium Channel Blockers, musculoskeletal diseases, Weakness, medicine.medical_specialty, Mexiletine, Lamotrigine, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Chloride Channels, Physiology (medical), Internal medicine, medicine, Humans, Genetic Testing, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscle, Skeletal, nondystrophic myotonias, CLCN1, Myotonia congenita, business.industry, Myalgia, medicine.disease, Myotonia, paramyotonia congenita, Acetazolamide, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ec05a1420fbda18f320e371bf7d797Test
https://hal.sorbonne-universite.fr/hal-03461673Test -
4Co-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: 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 -
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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 -
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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 -
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المؤلفون: M. Fortunato, Roberto Lanzi, Valeria A. Sansone, Marco Losa, Marina Scavini, Stefano C. Previtali, Elisa Gatti, Emanuele Bosi, G. Meola
المساهمون: Lanzi, R, Previtali, Sc, Sansone, V, Scavini, M, Fortunato, M, Gatti, E, Meola, G, Bosi, Emanuele, Losa, M.
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, Hypokalemic Periodic Paralysis, Context (language use), Hypopituitarism, GH deficiency, Hyperinsulinemia, Hypokalemic periodic paralisis, Endocrinology, Hypokalemic periodic paralysis, Internal medicine, medicine, Humans, Dwarfism, Pituitary, Muscle biopsy, medicine.diagnostic_test, business.industry, Human Growth Hormone, Muscles, medicine.disease, Hypokalemia, Diabetes insipidus, Settore MED/26 - Neurologia, Acquired Growth Hormone Deficiency, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b349d817be00ec62a654deb4fb815bTest
http://www.scopus.com/inward/record.url?eid=2-s2.0-34347240338&partnerID=MN8TOARSTest