يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Valeria A Sansone"', وقت الاستعلام: 0.80s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapiesResearch in context

    المؤلفون: Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro

    المصدر: EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)

    مصطلحات موضوعية: Spinal muscular atrophy, Gene therapy, Follow-up, Longitudinal, Safety, Medicine (General), R5-920

    وصف الملف: electronic resource

    العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023001748Test; https://doaj.org/toc/2589-5370Test

    الوصول الحر: https://doaj.org/article/40165d9821824625a9a6285a88f2fdbcTest

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

    المؤلفون: Maria S. Falzarano, Andrea Grilli, Silvia Zia, Mingyan Fang, Rachele Rossi, Francesca Gualandi, Paola Rimessi, Reem El Dani, Marina Fabris, Zhiyuan Lu, Wenyan Li, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Andrea Barp, Valeria A. Sansone, Madhuri Hegde, Barbara Roda, Pierluigi Reschiglian, Silvio Bicciato, Rita Selvatici, Alessandra Ferlini

    المصدر: HGG Advances, Vol 3, Iss 1, Pp 100054- (2022)

    مصطلحات موضوعية: Genetics, QH426-470

    العلاقة: http://www.sciencedirect.com/science/article/pii/S266624772100035XTest; https://doaj.org/toc/2666-2477Test; https://doaj.org/article/3a7a2bfb3cf140d9857e7dead5dabb32Test

    الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100054Test
    https://doaj.org/article/3a7a2bfb3cf140d9857e7dead5dabb32Test

    View record in BASE النص الكامل

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  3. 3
    RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

    المؤلفون: Silvia Zia, Valeria A. Sansone, Barbara Roda, Pierluigi Reschiglian, Alessandra Ferlini, Wenyan Li, Francesca Gualandi, Andrea Barp, Andrea Grilli, Zhiyuan Lu, Silvio Bicciato, Federica Ricci, M. Fabris, Madhuri Hegde, Luca Bello, Tiziana Mongini, Paola Rimessi, Reem El Dani, Rachele Rossi, Maria Sofia Falzarano, Elena Pegoraro, Mingyan Fang, Rita Selvatici

    المصدر: HGG Advances, Vol 3, Iss 1, Pp 100054-(2022)
    Human Genetics and Genomics Advances

    مصطلحات موضوعية: Antisense therapy, musculoskeletal diseases, Mutation, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, government.form_of_government, Socio-culturale, RNA-Seq, Computational biology, Biology, QH426-470, medicine.disease_cause, medicine.disease, Article, Gene expression profiling, Transcription (biology), RNA splicing, medicine, government, biology.protein, Genetics, Molecular Medicine, Dystrophin, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e477b56a8959acf282748c98930674aTest
    http://www.sciencedirect.com/science/article/pii/S266624772100035XTest


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  4. 4
    Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

    المؤلفون: Valeria A. Sansone, Eleonora Corti, Marzia Lecchi, Francesca Magri, Domenica Saccomanno, Stefania Corti, Monika Raimondi, Giacomo P. Comi, Enzo Wanke, Giovanni Meola, Grazia D'Angelo, Elisa Redaelli, Sabrina Lucchiari, Anna Modoni, Gianna Ulzi, Serena Pagliarani, Nereo Bresolin

    المساهمون: Ulzi, G, Lecchi, M, Sansone, V, Redaelli, E, Corti, E, Saccomanno, D, Pagliarani, S, Corti, S, Magri, F, Raimondi, M, D'Angelo, G, Modoni, A, Bresolin, N, Meola, G, Wanke, E, Comi, G, Lucchiari, S

    مصطلحات موضوعية: Adult, Male, Patch-Clamp Techniques, Adolescent, Myotonia Congenita, Mutation, Missense, Muscle disorder, Cell Line, Young Adult, Channelopathy, Chloride Channels, BIO/09 - FISIOLOGIA, medicine, Humans, Repolarization, Genetic Predisposition to Disease, Child, Aged, Genetics, CLCN1, biology, Myotonia congenita, Cell Membrane, Electric Conductivity, Skeletal muscle, Middle Aged, medicine.disease, Molecular biology, Resting potential, Muscle relaxation, medicine.anatomical_structure, Italy, Neurology, biology.protein, Female, Neurology (clinical), Skeletal muscle, Channelopathy, CLCN1 gene, Myotonia congenita, Thomsen's disease, Becker's generalized myotonia

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d5e2eb0c92a0d15a0920cb68d6a8bTest
    http://hdl.handle.net/10281/32847Test


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