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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: Luca Maria Sconfienza, Tommaso Tartaglione, Claudia Cinnante, Matteo Garibaldi, Marika Pane, Maria Carmela Pera, Lara Cristiano, Emilio Albamonte, Tommaso Verdolotti, Giovanni Antonini, Valeria A. Sansone, Claudia Brogna, Angela Berardinelli, Eugenio Mercuri, Anna Pichiecchio, G. Comi
المصدر: Neuromuscular Disorders. 29:S111
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), SMA, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::92d7ace97bc56b6a320c0c7e9e7c2960Test
https://doi.org/10.1016/j.nmd.2019.06.267Test -
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المؤلفون: Isabella Moroni, L. Colleoni, Anna Ardissone, Pia Bernasconi, Valeria A. Sansone
المصدر: Neuromuscular disorders : NMD. 27(3)
مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, Pathology, Intrafamilial phenotypic variability, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Andersen–Tawil syndrome, Channelopathy, Paralysis, Medicine, Humans, Genetics (clinical), Andersen Syndrome, business.industry, Cardiac arrhythmia, Muscle weakness, Periodic paralysis, medicine.disease, Pedigree, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4af16365d96d7ef41d12b144512fdeeeTest
https://pubmed.ncbi.nlm.nih.gov/29032928Test -
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المصدر: Neuromuscular Disorders. 7:S53-S56
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Proximal muscle weakness, Biopsy, Muscular Dystrophies, Oculopharyngeal muscular dystrophy, Sarcolemma, Ptosis, medicine, Blepharoptosis, Humans, Muscle, Skeletal, Myopathy, Genetics (clinical), Aged, Family Health, Inclusion Bodies, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Middle Aged, medicine.disease, Dysphagia, Pedigree, Microscopy, Electron, Italy, Neurology, Oculomotor Muscles, Pediatrics, Perinatology and Child Health, Pharyngeal Muscles, Female, Neurology (clinical), medicine.symptom, Bilateral ptosis, Deglutition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d26cad78adfbe68291219040d40c428Test
https://doi.org/10.1016/s0960-8966Test(97)00083-7 -
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المؤلفون: A. Jabbour, Valeria A. Sansone, M. Sterlicchio, G. Rotondo, G. Meola
المصدر: Neuromuscular Disorders. 7:461
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Miyoshi myopathy, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bec10e59f950b2aadda3c33c0d50ce62Test
https://doi.org/10.1016/s0960-8966Test(97)87301-4