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المؤلفون: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test -
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المؤلفون: Carmelo Messina, Elena Passeri, G. Meola, Valeria A. Sansone, Luca Maria Sconfienza, Sabrina Corbetta
المصدر: Neuromuscular Disorders. 30:28-34
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Osteoporosis, Myotonic dystrophy, Body Mass Index, Fractures, Bone, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Insulin resistance, Bone Density, Internal medicine, medicine, Humans, Myotonic Dystrophy, Testosterone, Mass index, Muscle, Skeletal, Pelvic Bones, Genetics (clinical), Bone mineral, business.industry, Skeletal muscle, Middle Aged, medicine.disease, Osteopenia, Bone Diseases, Metabolic, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Body mass index, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f89558b3f08f80061fef61cb4c4dc0Test
https://doi.org/10.1016/j.nmd.2019.11.006Test -
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المؤلفون: Emilio Albamonte, Adele D'Amico, Sonia Messina, Valeria A. Sansone, Luca Mauro, Susanna Pozzi, Maria Carmela Pera, Marika Pane, Andrea Lizio, Enrico Bertini, Cristina Italiano, Claudio Bruno, Lucia Greco, Giorgia Coratti, Christine Zizzi, Alice Pirola, Maria Sframeli, Claudia Stancanelli, Chad Heatwole, Francesca Salmin, Jacopo Casiraghi, Eugenio Mercuri, Marina Pedemonte
مصطلحات موضوعية: 0301 basic medicine, Male, Severity of Illness Index, Internal validity, Cohort Studies, 0302 clinical medicine, Cost of Illness, Surveys and Questionnaires, Medicine, Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Middle Aged, SMA, Muscular Atrophy, medicine.anatomical_structure, Test-retest reliability, Neurology, Italy, Cohort, Upper limb, Spinal muscular atrophy health index, Patient-reported outcome, Female, Adult, medicine.medical_specialty, Adolescent, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, Patient-reported outcomes, Spinal muscular atrophy, Humans, Quality of Life, Reproducibility of Results, Translations, Patient Reported Outcome Measures, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Cronbach's alpha, Disease burden, business.industry, medicine.disease, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Physical therapy, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7d219115205388497280afb4c47d6aTest
http://hdl.handle.net/10807/182752Test -
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المؤلفون: Valeria A. Sansone
المصدر: Continuum (Minneapolis, Minn.). 25(6)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Muscle mri, Adolescent, business.industry, Outcome measures, Periodic paralysis, Neuromuscular Diseases, Muscle disorder, Gene mutation, medicine.disease, Myotonia, Paralyses, Familial Periodic, Food and drug administration, Child, Preschool, medicine, Humans, Dichlorphenamide, Female, Neurology (clinical), business, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7655228bb402d9672eff8124abc6a60dTest
https://pubmed.ncbi.nlm.nih.gov/31794467Test -
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المؤلفون: Elena Costa, Giulia Merletti, Rosanna Cardani, Valeria A. Sansone, Giovanni Meola, Ilaria Merli, Rea Valaperta, Edoardo Spina, Barbara Fossati, Fortunata Lombardi, Elisa Brigonzi
المصدر: Genetic Testing and Molecular Biomarkers. 19:703-709
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, Pathology, medicine.medical_specialty, Myotonic dystrophy type 2, Myotonic dystrophy, Cohort Studies, Predictive Value of Tests, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Myopathy, Genetics (clinical), Aged, DNA Repeat Expansion, medicine.diagnostic_test, business.industry, RNA-Binding Proteins, General Medicine, Middle Aged, medicine.disease, Myotonia, DNA extraction, Predictive value of tests, Female, Reagent Kits, Diagnostic, medicine.symptom, business, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52dd5c253026040cdc605b60e4c8895Test
https://doi.org/10.1089/gtmb.2015.0135Test -
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المؤلفون: Valeria A. Sansone
المصدر: Continuum (Minneapolis, Minn.). 22(6, Muscle and Neuromuscular)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, MEDLINE, Myotonia, Diagnosis, Differential, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, Myotonic Dystrophy, Genetics (clinical), Voltage-Gated Sodium Channel Blockers, business.industry, Infant, Newborn, RNA, Middle Aged, medicine.disease, 030104 developmental biology, Antisense oligonucleotides, Channelopathies, Female, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8707f6830cf0b9bf3745aad5ab33b642Test
https://pubmed.ncbi.nlm.nih.gov/27922499Test -
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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 -
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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: Richard T. Moxley, Martin Schalling, Valeria A. Sansone, Qiu-Ping Yuan, Matt Krym, Donald Henderson, Maurice S. Swanson, Carl R. Urbinati, Ami Mankodi, Charles A. Thornton
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Mutant, Biology, Myotonic dystrophy, chemistry.chemical_compound, Ribonucleases, Trinucleotide Repeats, Genetics, medicine, Animals, Drosophila Proteins, Humans, Myotonic Dystrophy, MBNL1, Muscle, Skeletal, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical), Aged, Cell Nucleus, Messenger RNA, Nuclear Proteins, RNA, General Medicine, Middle Aged, medicine.disease, Molecular biology, Cell nucleus, medicine.anatomical_structure, chemistry, Drosophila, Female, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e736e609ea25f97a58381a65efa430d5Test
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034783271&partnerID=MN8TOARSTest