نتائج البحث - "Rossella Tupler"

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

6

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data

المؤلفون: Tim H. A. Schreuder, George W. Padberg, Nicol C. Voermans, Jean K. Mah, Baziel G.M. van Engelen, Rianne J.M. Goselink, Corrie E. Erasmus, Rossella Tupler, Malgorzata Dorobek, Oebele F. Brouwer, Ana Nikolic, Kees Okkersen

المصدر: Neuromuscular Disorders, 27, 12, pp. 1077-1083
Neuromuscular Disorders, 27, 1077-1083

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Neurology, Disease, Facioscapulohumeral dystrophy, DISEASE, FACIAL DIPLEGIA, 0302 clinical medicine, RETINAL-VESSELS, SENSORINEURAL HEARING-LOSS, ATYPICAL FEATURES, Muscular dystrophy, Age of Onset, COATS SYNDROME, Child, Genetics (clinical), EPILEPSY, Perinatology and Child Health, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Facioscapulohumeral, Natural history, Sensorineural hearing loss, medicine.symptom, musculoskeletal diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Infantile FSHD, Hearing loss, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], 03 medical and health sciences, medicine, Humans, business.industry, Early onset, Pediatrics, Perinatology and Child Health, Neurology (clinical), Dystrophy, Infant, medicine.disease, MUSCULAR-DYSTROPHY, nervous system diseases, MOBIUS-SYNDROME, 030104 developmental biology, Physical therapy, Age of onset, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1a12a921d7cdcb7811488c22062e178Test
https://hdl.handle.net/2066/182475Test

7

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

المؤلفون: Francesca Magri, Annalaura Torella, Corrado Angelini, Vincenzo Nigro, Luisa Politano, Olimpia Farina, Kathleen Claes, Roberta Petillo, Paola D'Ambrosio, Gabriele Siciliano, Enrico Bertini, Marina Fanin, Francesca Gualandi, Sonia Messina, Giorgio Tasca, Peter Hackman, Giulio Piluso, Alessandra Ruggieri, Simone Sanpaolo, Enzo Ricci, Jan De Bleecker, Lucia Ruggiero, Giacomo P. Comi, Sabrina Sacconi, Dario Ronchi, Adele D'Amico, Giuseppina Di Fruscio, Giulia Ricci, Eugenio Mercuri, Giuseppe Di Iorio, Chiara Fiorillo, Maurizio Moggio, Liliana Vercelli, Tiziana Mongini, Claudio Bruno, Lorenzo Maggi, Olimpia Musumeci, Marina Mora, Veer Singh Marwah, Carlo Minetti, Carmelo Rodolico, L. Passamano, Bjarne Udd, Guja Astrea, Arcomaria Garofalo, Elena Pegoraro, Margherita Mutarelli, Gaia Esposito, Sandra Janssens, Anni Evilä, Massimiliano Filosto, Francesca Del Vecchio Blanco, Lucio Santoro, Antonio Toscano, Rossella Tupler, Marco Savarese, Teresa Giugliano, Filippo M. Santorelli

المساهمون: Savarese, M, Di Fruscio, G, Torella, Annalaura, Fiorillo, C, Magri, F, Fanin, M, Ruggiero, L, Ricci, G, Astrea, G, Passamano, L, Ruggieri, A, Ronchi, D, Tasca, G, D'Amico, A, Janssens, S, Farina, O, Mutarelli, M, Marwah, V, Garofalo, A, Giugliano, T, Sampaolo, Simone, DEL VECCHIO BLANCO, Francesca, Esposito, G, Piluso, Giulio, D'Ambrosio, P, Petillo, R, Musumeci, O, Rodolico, C, Messina, S, Evilä, A, Hackman, P, Filosto, M, DI IORIO, Giuseppe, Siciliano, G, Mora, M, Maggi, L, Minetti, C, Sacconi, S, Santoro, Laura, Claes, K, Vercelli, L, Mongini, T, Ricci, E, Gualandi, F, Tupler, R, De Bleecker, J, Udd, B, Toscano, A, Moggio, M, Pegoraro, E, Bertini, E, Mercuri, E, Angelini, C, Santorelli, Fm, Politano, Luisa, Bruno, C, Comi, Gp, Nigro, Vincenzo

المصدر: Neurology

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Pathology, MENDELIAN DISEASE, Eleventh, Bioinformatics, Muscular Dystrophies, Cohort Studies, 0302 clinical medicine, congenital myopathy, 030212 general & internal medicine, Muscular dystrophy, limb-girdle muscular dystrophy, Phenotype, MENDELIAN DISEASE, NEUROMUSCULAR DISORDERS, DIAGNOSIS, PHENOTYPES, DUCHENNE, 3. Good health, Italy, Female, medicine.symptom, Sequence Analysis, muscular dystrophy, medicine.medical_specialty, PHENOTYPES, DIAGNOSIS, Article, Diagnosis, Differential, 03 medical and health sciences, NEUROMUSCULAR DISORDERS, Genetic variation, medicine, Humans, Myopathy, business.industry, Genetic Variation, Correction, Regret, Molecular diagnostics, medicine.disease, Congenital myopathy, neuromuscular disorder, 030104 developmental biology, Disease Presentation, next-generation sequencing, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cadf28abf1d6c5d4370d160d717b4a33Test
http://hdl.handle.net/11570/3094488Test

8

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

المساهمون: Nikolic, Ana, Ricci, Giulia, Sera, Francesco, Bucci, Elisabetta, Govi, Monica, Mele, Fabiano, Rossi, Marta, Ruggiero, Lucia, Vercelli, Liliana, Ravaglia, Sabrina, Brisca, Giacomo, Fiorillo, Chiara, Villa, Luisa, Maggi, Lorenzo, Cao, Michelangelo, D'Amico, Maria Chiara, Siciliano, Gabriele, Antonini, Giovanni, Santoro, Lucio, Mongini, Tiziana, Moggio, Maurizio, Morandi, Lucia, Pegoraro, Elena, Angelini, Corrado, Di Muzio, Antonio, Rodolico, Carmelo, Tomelleri, Giuliano, D'Angelo, Maria Grazia, Bruno, Claudio, Berardinelli, Angela, Tupler, Rossella

المصدر: BMJ Open

مصطلحات موضوعية: 0301 basic medicine, Male, Facioscapulohumeral, Disease, Kaplan-Meier Estimate, Severity of Illness Index, 0302 clinical medicine, Medicine, Facioscapulohumeral muscular dystrophy, genetics, Muscular Dystrophy, Registries, Young adult, Age of Onset, Child, medicine.diagnostic_test, Medicine (all), Microfilament Proteins, RNA-Binding Proteins, Nuclear Proteins, General Medicine, Middle Aged, Penetrance, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Neurology, Italy, Child, Preschool, Female, 1-3 D4-Z4 reduced alleles, Adult, medicine.medical_specialty, Adolescent, Genotype, Physical examination, FSHD, D4Z4 repetitive elements, genotype-phenotype correlation, infantile FSHD, 03 medical and health sciences, Young Adult, Internal medicine, Severity of illness, Humans, Preschool, Survival analysis, Alleles, FSHD, Infant, Infant, Newborn, business.industry, Research, medicine.disease, Newborn, 030104 developmental biology, Physical therapy, Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78c4c19846aebfdaa96cf23f5fce273dTest
http://hdl.handle.net/11568/767143Test

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