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1دورية أكاديمية
المؤلفون: Marco Veneruso, Chiara Fiorillo, Paolo Broda, Serena Baratto, Monica Traverso, Alice Donati, Salvatore Savasta, Raffaele Falsaperla, Maria Margherita Mancardi, Marina Pedemonte, Chiara Panicucci, Gianluca Piatelli, Mattia Pacetti, Andrea Moscatelli, Luca Antonio Ramenghi, Lino Nobili, Carlo Minetti, Claudio Bruno
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: muscle biopsy, floppy infant, muscular dystrophy, congenital myopathy, genetic outcome, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Michele Iacomino, Roberto Doliana, Maria Marchese, Alessandra Capuano, Pasquale Striano, Paola Spessotto, Giulia Bosisio, Rosa Iodice, Fiore Manganelli, Paola Lanteri, Alessandro Orsini, Simona Baldassari, Serena Baratto, Floriana Fruscione, Valeria Prada, Paolo Broda, Alessandra Tessa, Giulia Bertocci, Angelo Schenone, Alfonso Colombatti, Carlo Minetti, Filippo Maria Santorelli, Federico Zara, Chiara Fiorillo
المصدر: Neurobiology of Disease, Vol 137, Iss , Pp 104757- (2020)
مصطلحات موضوعية: EMILIN1, Exome sequencing, Motor neuropathy, Danio rerio, Extracellular matrix, Fibroblast, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Marina Pedemonte, Claudio Bruno, Raffaele Falsaperla, Chiara Fiorillo, Mattia Pacetti, Andrea Moscatelli, Alice Donati, Marco Veneruso, Paolo Broda, Maria Margherita Mancardi, Luca A. Ramenghi, Carlo Minetti, Chiara Panicucci, Salvatore Savasta, Gianluca Piatelli, Lino Nobili, M. Traverso, Serena Baratto
المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurologyمصطلحات موضوعية: muscular dystrophy, medicine.medical_specialty, congenital myopathy, Biopsy, medicine, Sampling (medicine), Muscular dystrophy, RC346-429, Floppy Infant, Muscle biopsy, medicine.diagnostic_test, business.industry, genetic outcome, Brief Research Report, medicine.disease, floppy infant, Congenital myopathy, Hypotonia, Neurology, Histopathology, Neurology. Diseases of the nervous system, Neurology (clinical), Radiology, muscle biopsy, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0afa18e5026b1ed43f4b21aad0f8ae3
https://doi.org/10.3389/fneur.2021.735488 -
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المؤلفون: Pasquale Striano, Paolo Broda, Giulia Bosisio, Filippo M. Santorelli, Carlo Minetti, Chiara Fiorillo, Serena Baratto, Paola Spessotto, Simona Baldassari, Alessandra Tessa, Valeria Prada, Federico Zara, Maria Marchese, Roberto Doliana, Alfonso Colombatti, Fiore Manganelli, Rosa Iodice, Floriana Fruscione, Alessandra Capuano, Michele Iacomino, Giulia Bertocci, Paola Lanteri, Alessandro Orsini, Angelo Schenone
المساهمون: Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A., Minetti, C., Santorelli, F. M., Zara, F., Fiorillo, C.
المصدر: Neurobiology of Disease, Vol 137, Iss, Pp 104757-(2020)
مصطلحات موضوعية: 0301 basic medicine, Male, Exome sequencing, Pathology, medicine.medical_specialty, Adolescent, Motor nerve, Biology, Gene mutation, lcsh:RC321-571, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Missense mutation, Animals, Humans, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Zebrafish, Skin, Nerve biopsy, Muscle biopsy, Danio rerio, EMILIN1, Extracellular matrix, Fibroblast, Motor neuropathy, Fibroblasts, Membrane Glycoproteins, Middle Aged, Mutation, Phenotype, medicine.diagnostic_test, 030104 developmental biology, medicine.anatomical_structure, Neurology, Peripheral nervous system, 030217 neurology & neurosurgery, Sensory nerve
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8824e6365ddd6a30360c6cb032c802f0
http://hdl.handle.net/11588/803123 -
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المؤلفون: M. Ferretti, Paolo Broda, Carlo Minetti, Claudio Bruno, Federico Zara, Stefania Assereto, Serena Baratto, Marina Pedemonte, Maria Cristina Diana, Francesca Madia, Michele Iacomino, Chiara Fiorillo, Elisabetta Gazzerro, Monica Traverso
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA, Complementary, Adolescent, Genetics, Genetics (clinical), Biopsy, Protein degradation, Biology, Dystrophin, 03 medical and health sciences, Exon, Open Reading Frames, 0302 clinical medicine, medicine, Humans, Multiplex ligation-dependent probe amplification, RNA, Messenger, Muscular dystrophy, Muscle, Skeletal, Creatine Kinase, Messenger RNA, Exons, Myalgia, medicine.disease, Stop codon, Muscular Dystrophy, Duchenne, Open reading frame, 030104 developmental biology, Phenotype, biology.protein, Codon, Terminator, 030217 neurology & neurosurgery, Gene Deletion
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1283d73a6b4bce4ab4bca9d5f489b81
http://hdl.handle.net/11567/926457 -
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المؤلفون: Catia Romano, Vincenzo Nigro, Pasquale Striano, Federico Zara, Michele Iacomino, Giulia Pozzolini, Paolo Broda, Annalaura Torella, Chiara Fiorillo, Mariasavina Severino, Carlo Minetti, Raffaele Falsaperla
المساهمون: Iacomino, Michele, Fiorillo, Chiara, Torella, Annalaura, Severino, Mariasavina, Broda, Paolo, Romano, Catia, Falsaperla, Raffaele, Pozzolini, Giulia, Minetti, Carlo, Striano, Pasquale, Nigro, Vincenzo, Zara, Federico
مصطلحات موضوعية: 0301 basic medicine, Male, Exome sequencing, Microcephaly, Motor neuron, Developmental Disabilities, 030105 genetics & heredity, medicine.disease_cause, Nervous System Malformations, Pediatrics, Muscular Atrophy, Spinal, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, medicine, Humans, PRUNE, Motor Neurons, Mutation, Brain Diseases, business.industry, Homozygote, fungi, Infant, General Medicine, Spinal muscular atrophy, Syndrome, Perinatology and Child Health, medicine.disease, Brain development, Phosphoric Monoester Hydrolases, Developmental disorder, Phenotype, nervous system, Pediatrics, Perinatology and Child Health, Muscle biopsy, Neurology (clinical), Cerebellar atrophy, business, Carrier Proteins, Neuroscience, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64561a761df48a7102029ccf21008240
http://hdl.handle.net/11591/387985 -
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المؤلفون: Paolo Broda, Francesca Madia, Claudio Bruno, Federico Zara, Domenico Bartolomeo, Riccardo Papa, Chiara Fiorillo, Monica Traverso, Federica Trucco, Marina Pedemonte, Carlo Minetti
مصطلحات موضوعية: 0301 basic medicine, Duchenne muscular dystrophy, Pathology, medicine.medical_specialty, Adolescent, Scoliosis, Exercise intolerance, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Frameshift Mutation, Creatine Kinase, Sequence Deletion, Duchenne muscular dystrophy, pediatric, female carrier, Muscle biopsy, medicine.diagnostic_test, biology, Electromyography, business.industry, Muscle weakness, medicine.disease, Muscular Dystrophy, Duchenne, 030104 developmental biology, pediatric, Neurology, female carrier, Child, Preschool, Pediatrics, Perinatology and Child Health, biology.protein, Female, Creatine kinase, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab0300fc7066d1902a0bd499737cf95
http://hdl.handle.net/11567/823249 -
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المؤلفون: Antonino Lupica, Marco Tartaglia, Emanuele Bellacchio, Gigliola Fagiolari, Chiara Fiorillo, E. Bertini, Margherita Verardo, Giorgio Tasca, Carmelo Rodolico, Maurizio Moggio, Alessandra D'Amico, Fabiana Fattori, Claudio Bruno, Paolo Broda
المصدر: Neuromuscular Disorders. 27:S186
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, 030105 genetics & heredity, Biology, Protein aggregation, medicine.disease, Congenital myopathy, 03 medical and health sciences, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Nemaline bodies, Genetics (clinical)
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المؤلفون: A. Panella, Michael P. Lisanti, Claudio Bruno, Federico Zara, Federica Sotgia, Emiliana Masetti, Paolo Broda, F. Dagna Bricarelli, Carlo Minetti, G. Cordone, I. Carbone, M. Bado
المصدر: Neurology. 54:1373-1376
مصطلحات موضوعية: Mutation, Muscle weakness, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Caveolin 3, medicine, biology.protein, Immunohistochemistry, Creatine kinase, Neurology (clinical), Differential diagnosis, Muscular dystrophy, medicine.symptom, Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::641dc1c5303bc80bcc24f8418151e526
https://doi.org/10.1212/wnl.54.6.1373 -
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المؤلفون: Fabiana Fattori, Federica Trucco, Carlo Minetti, E. Bertini, Anna Rubegni, Marina Pedemonte, Jacopo Baldacci, Filippo M. Santorelli, Vincenzo Nigro, Claudio Bruno, Alessandra Tessa, Marco Savarese, Chiara Fiorillo, Guja Astrea, Paolo Broda
المصدر: Neuromuscular Disorders. 25:S274
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Neurology, business.industry, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.disease, business, X-linked myotubular myopathy, Genetics (clinical)