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المؤلفون: Irene Meola, Maria Teresa Rinaudo, Giovanni de Marco, Christian Lunetta, Paola Origone, Emilio Albamonte, Adriano Chiò, Cristina Moglia, Paola Mandich, Valeria A. Sansone, Annarosa Lomartire, Rosario Vasta, Antonio Canosa, Andrea Calvo, Umberto Manera, Paola Lanteri
مصطلحات موضوعية: 0301 basic medicine, Proband, Aging, medicine.medical_specialty, Heterozygote, Juvenile amyotrophic lateral sclerosis, Gene Expression, Loss of Heterozygosity, Gene mutation, medicine.disease_cause, FUS gene, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, medicine, Humans, Cognitive Dysfunction, RNA, Messenger, Truncated FUS protein expression, Child, Genetic Association Studies, Mutation, biology, business.industry, General Neuroscience, Amyotrophic Lateral Sclerosis, Wild type, Exons, 030104 developmental biology, Endocrinology, biology.protein, Disease Progression, RNA-Binding Protein FUS, Female, Neurology (clinical), Geriatrics and Gerontology, Antibody, business, 030217 neurology & neurosurgery, Nuclear localization sequence, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c9399758a8ee88ea463149dac02123Test
http://hdl.handle.net/2318/1778138Test -
2
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 -
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المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 57:e149-e151
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, business.industry, Biochemistry (medical), Clinical Biochemistry, General Medicine, medicine.disease, Dysphagia, Polymyositis, Gastroenterology, 03 medical and health sciences, Elevation (emotion), 030104 developmental biology, 0302 clinical medicine, Internal medicine, biology.protein, medicine, Creatine kinase, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94bf21528f79287a9f1d1ced2ec4c28fTest
https://doi.org/10.1515/cclm-2018-0928Test -
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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 -
5Co-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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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 -
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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 -
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المؤلفون: G. Meola, Valeria A. Sansone, G. Rotondo, Louis J. Ptáček
المصدر: Italian journal of neurological sciences. 15(9)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Myotonia Congenita, Nav1.4, Molecular Sequence Data, Dermatology, Sodium Channels, Hypokalemic periodic paralysis, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Muscle, Skeletal, Polymorphism, Genetic, biology, Base Sequence, Myotonia congenita, Electromyography, General Neuroscience, Skeletal muscle, Periodic paralysis, General Medicine, Middle Aged, medicine.disease, Myotonia, Pedigree, Psychiatry and Mental health, Endocrinology, medicine.anatomical_structure, Phenotype, Italy, Paramyotonia congenita, Mutation, biology.protein, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ce4b861e61a31559998d995e36d144Test
https://pubmed.ncbi.nlm.nih.gov/7721550Test