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1
المؤلفون: Valeria A. Sansone, Francesca Bovis, Richard S. Finkel, Maria Carmela Pera, Eugenio Mercuri, Laura Antonaci, Giorgia Coratti, Fabrizia Chieppa, Marika Pane, Marta Ponzano, Costanza Cutrona
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: medicine.medical_specialty, Spinal, Oligonucleotides, Review, Critical review, Nusinersen, Spinal muscular atrophy, Child, Humans, Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood, Motor function, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Pharmacology (medical), Time point, Genetics (clinical), business.industry, General Medicine, SMA, medicine.disease, Muscular Atrophy, Meta-analysis, Medicine, Functional status, business, Real world data
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a2896e190acd33d257649bc13b1f3dTest
https://doi.org/10.1186/s13023-021-02065-zTest -
2Co-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 -
3
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