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المؤلفون: Marianna Farnè, Fernanda Fortunato, Marcella Neri, Matteo Farnè, Cristina Balla, Emilio Albamonte, Andrea Barp, Annarita Armaroli, Enrica Perugini, Valeria Carinci, Marco Facchini, Luca Chiarini, Valeria A. Sansone, Sofia Straudi, Valeria Tugnoli, Elisabetta Sette, Mariachiara Sensi, Matteo Bertini, Teresinha Evangelista, Alessandra Ferlini, Francesca Gualandi
المصدر: European Journal of Medical Genetics. 66:104749
مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e4e956be80d6636ae3f5d7d61538a81aTest
https://doi.org/10.1016/j.ejmg.2023.104749Test -
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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 Advancesمصطلحات 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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المؤلفون: Stefano C. Previtali, Federica Ricci, Marika Pane, Angela Berardinelli, Valeria A. Sansone, Tiziana Mongini, Claudia Brogna, Gianluca Vita, Marina Pedemonte, Eugenio Mercuri, Luisa Politano, Francesca Magri, Giorgia Coratti, Roberta Battini, Rachele Rossi, Claudio Bruno, Sonia Messina, Giacomo P. Comi, Giovanni Baranello, Elena Pegoraro, Francesca Bovis, Nathalie Goemans, Adele D’ Amico, Alessandra Ferlini, Alice Donati, Enrico Bertini, Luca Bello, Simona Lucibello, Emilio Albamonte, Marcella Neri
مصطلحات موضوعية: 0301 basic medicine, Male, Duchenne muscular dystrophy, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Dystrophin, chemistry.chemical_compound, Exon, 0302 clinical medicine, Belgium, Missense mutation, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Genetics, Mutation, Oxadiazoles, Nonsense mutation, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Exons, Stop codon, Settore MED/26 - NEUROLOGIA, Neurology, Italy, Codon, Nonsense, Child, Preschool, Settore BIO/18 - GENETICA, Walk Test, Frameshift mutation, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Preschool, Codon, business.industry, Duchenne, Stop+4 model, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, 030104 developmental biology, chemistry, Nonsense, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee30573332bc60720ccd98a49ef9a6c6Test
http://hdl.handle.net/10807/182743Test -
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المؤلفون: Rachele Rossi, Valeria A. Sansone, Francesca Gualandi, Maria Sofia Falzarano, Mingyan Fang, Rita Selvatici, Luca Bello, J. Lu, Alessandra Ferlini, Elena Pegoraro
المصدر: Neuromuscular Disorders. 31:S84
مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a24150e1c15ff2cd8fdc40fad212553Test
https://doi.org/10.1016/j.nmd.2021.07.142Test -
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المؤلفون: Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno
مصطلحات موضوعية: Candidate gene, Genetic Linkage, Gene Dosage, Inheritance Patterns, SMN1, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Article, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Gene Frequency, Genetics, medicine, Humans, Gene, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Base Sequence, 030305 genetics & heredity, Intron, Computational Biology, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Molecular biology, Survival of Motor Neuron 1 Protein, nervous system diseases, Pedigree, Survival of Motor Neuron 2 Protein, Phenotype, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793Test
https://europepmc.org/articles/PMC6503527Test/ -
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المؤلفون: L. Colleoni, Massimiliano Filosto, Anna Ardissone, Tiziana Mongini, M. Lo Monaco, Sabrina Ravaglia, Giulia Ricci, Lorenzo Maggi, Gabriele Siciliano, Valeria A. Sansone, Antonella Pini, D. Kapetis, Pia Bernasconi, Renato Mantegazza, Isabella Moroni, Lucia Morandi, Elena Pegoraro, Liliana Vercelli, G. Meola, Raffaella Brugnoni
المصدر: Neuromuscular Disorders. 24:841-842
مصطلحات موضوعية: Genetics, CLCN1, Genetic heterogeneity, media_common.quotation_subject, Nonsense, Skeletal muscle, Periodic paralysis, Biology, Myotonia, medicine.disease, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Missense mutation, Neurology (clinical), Gene, Genetics (clinical), media_common
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aa4bb10fc5cb83b0d214636597f04b93Test
https://doi.org/10.1016/j.nmd.2014.06.166Test -
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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