نتائج البحث - "Rossella Tupler"

المساهمون: Ricci, G., Mele, F., Govi, M., Ruggiero, L., Sera, F., Vercelli, L., Bettio, C., Santoro, L., Mongini, T., Villa, L., Moggio, M., Filosto, M., Scarlato, M., Previtali, S. C., Tripodi, S. M., Pegoraro, E., Telese, R., Di Muzio, A., Rodolico, C., Bucci, E., Antonini, G., D'Angelo, M. G., Berardinelli, A., Maggi, L., Piras, R., Maioli, M. A., Siciliano, G., Tomelleri, G., Angelini, C., Tupler, R.

المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, Weakness, Genotype, Facioscapulohumeral, Science, Genetic counseling, 030105 genetics & heredity, Article, 03 medical and health sciences, Medical research, 0302 clinical medicine, medicine, Facioscapulohumeral muscular dystrophy, Humans, Muscular Dystrophy, Allele, Myopathy, Alleles, Genetics, FSHD, Multidisciplinary, Molecular medicine, business.industry, Facial weakness, Female, Muscular Dystrophy, Facioscapulohumeral, Phenotype, medicine.disease, Penetrance, D4Z4 borderline alleles, Genotype-Phenotype, Neurology, Risk factors, Medicine, medicine.symptom, business, 030217 neurology & neurosurgery, facioscapulohumeral muscular dystrophy D4Z$ fragment borderline, Human

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ccf4bfb92dfb033cc222e478de4938Test
http://hdl.handle.net/2318/1785955Test

7

Mosaicism in Human Health and Disease

المؤلفون: Jeremy Thorpe, Bracha Erlanger Avigdor, Jonathan Pevsner, Ikeoluwa A. Osei-Owusu, Rossella Tupler

المصدر: Annu Rev Genet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b2ecfa400125a6bea87fc10b3947afdTest
https://hdl.handle.net/11380/1211880Test

8

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy

المؤلفون: Stefania Murru, Loredana Boccone, Carmelo Rodolico, Francesco Sera, Teresa Brizzi, L. Passamano, Rossella Tupler, Simona Portaro, Luisa Politano

المساهمون: Rodolico, Carmelo, Politano, Luisa, Portaro, Simona, Murru, Stefania, Boccone, Loredana, Sera, Francesco, Passamano, Luigia, Brizzi, Teresa, Tupler, Rossella

المصدر: European Journal of Paediatric Neurology

مصطلحات موضوعية: musculoskeletal diseases, Male, Williams Syndrome, Williams-beuren syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Chromosome Disorders, Williams' syndrome, Article, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Medicine, Facioscapulohumeral muscular dystrophy, Humans, cardiovascular diseases, deletion, Muscular dystrophy, Allele, Child, Alleles, Genetics, FSHD, business.industry, Infant, General Medicine, Gene deletion, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Italy, Child, Preschool, Pediatrics, Perinatology and Child Health, Facio-scapulo-humeral dystrophy, S. di Williams -Beuren, Neurology (clinical), National registry, Chromosomes, Human, Pair 4, business, 030217 neurology & neurosurgery, Gene Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfbd879d8ce83a7bdd16a5522a0c53bTest
http://hdl.handle.net/11570/3172428Test

9

Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy

المؤلفون: Rossella Tupler

مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genotype, business.industry, General Medicine, Biology, medicine.disease, Muscular Dystrophies, Genotype phenotype, Correlation, Phenotype, Text mining, medicine, Humans, Muscular dystrophy, business, Genetic Association Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae499540d1870bba684822f8aa8c5feTest
https://hdl.handle.net/11380/1172833Test

10

Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

المؤلفون: Giovanna Cenacchi, Corrado Angelini, Jeanette F. Brunsting, Simon Alberti, Jessika Bertacchini, Dineke S. Verbeek, Serena Carra, Rossella Tupler, Jonathan Vinet, Jan Lammerding, Elena Pegoraro, Sara De Biasi, Laura Mediani, Sandra Marmiroli, Milena Nasi, Federica Francesca Morelli

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR), Movement Disorder (MD), Morelli, Federica F., Verbeek, Dineke S., Bertacchini, Jessika, Vinet, Jonathan, Mediani, Laura, Marmiroli, Sandra, Cenacchi, Giovanna, Nasi, Milena, De Biasi, Sara, Brunsting, Jeanette F., Lammerding, Jan, Pegoraro, Elena, Angelini, Corrado, Tupler, Rossella, Alberti, Simon, Carra, Serena

المصدر: Cell reports, 20(9), 2100-2115. CELL PRESS
Cell Reports
Cell Reports, Vol 20, Iss 9, Pp 2100-2115 (2017)

مصطلحات موضوعية: 0301 basic medicine, nucleu, Transcription, Genetic, Mutant, HSP27 Heat-Shock Proteins, DISEASE, A-TYPE LAMINS, congenital myopathy, TRANSCRIPTION, lcsh:QH301-705.5, Heat-Shock Proteins, IN-VIVO, Genetics, Muscles, CELLULAR SENESCENCE, Lamin Type A, Chromatin, Cell biology, Protein Transport, medicine.anatomical_structure, small HSP, Myogenin, medicine.symptom, Adult, lamin-A/C, DNA-DAMAGE RESPONSE, Biology, HEAT-SHOCK-PROTEIN, General Biochemistry, Genetics and Molecular Biology, Article, small HSPs, 03 medical and health sciences, Muscular Diseases, Heat shock protein, medicine, Humans, Amino Acid Sequence, Myopathy, nucleus, phase transition, Cell Nucleus, Nucleoplasm, Biochemistry, Genetics and Molecular Biology (all), MUSCLE DIFFERENTIATION, medicine.disease, Congenital myopathy, MUSCULAR-DYSTROPHY, Cell Compartmentation, 030104 developmental biology, lcsh:Biology (General), Mutation, CHROMATIN ORGANIZATION, RNA, Nucleus, Lamin, HeLa Cells

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::848621868b808effc3d9f6e0b7a70d98Test
https://research.rug.nl/en/publications/0fba090f-dcf6-41e9-aaa7-fe9479dec824Test

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