نتائج البحث - "Paolo Broda"

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

5

Clinical and molecular consequences of exon 78 deletion in DMD gene

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

6

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

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