المؤلفون: Davide Visigalli, Giovanna Capodivento, Abdul Basit, Roberto Fernández, Zeeshan Hamid, Barbora Pencová, Chiara Gemelli, Daniela Marubbi, Cecilia Pastorino, Adrienne M. Luoma, Christian Riekel, Daniel A. Kirschner, Angelo Schenone, José A. Fernández, Andrea Armirotti, Lucilla Nobbio

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: CMT1A, biomarker, drug, myelin, lipid metabolism, Schwann cell, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00903/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/dab3a83382504d50bb13125de0d5d8ed

المؤلفون: Giovanna Capodivento, Davide Visigalli, Martina Garnero, Roberto Fancellu, Michela Demetra Ferrara, Abdul Basit, Zeeshan Hamid, Vito Paolo Pastore, Silvano Garibaldi, Andrea Armirotti, Gianluigi Mancardi, Carlo Serrati, Elisabetta Capello, Angelo Schenone, Lucilla Nobbio

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/9565e9d63f784317a3a29b6d115273b5

المؤلفون: Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D. Gupta, Teresa M. Dunn, Carsten G. Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano

المصدر: Neuropathology and Applied Neurobiology. 48

مصطلحات موضوعية: l-serine, Sphingolipids, Histology, SPTLC1, Serine C-Palmitoyltransferase, Peripheral Nervous System Diseases, Pathology and Forensic Medicine, HSAN, Neurology, Physiology (medical), Mutation, Serine, Humans, S331, motor neuron, sphingolipids, Neurology (clinical), Hereditary Sensory and Autonomic Neuropathies, Motor Neuron Disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0adef0de11c681ceab6cde003990b7
https://doi.org/10.1111/nan.12842

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المؤلفون: Giovanna Capodivento, Luana Benedetti, Chiara De Michelis, Paola Lanteri, Marinella Carpo, Alessandro Beronio, Lucilla Nobbio, Davide Visigalli, Gabriele Siciliano, Fiore Manganelli, Elisabetta Capello, Roberto Fancellu, Angelo Schenone, Erika Schirinzi, Daniele Severi, Eduardo Nobile-Orazio, Diego Franciotta

المساهمون: Capodivento, G., de Michelis, C., Carpo, M., Fancellu, R., Schirinzi, E., Severi, D., Visigalli, D., Franciotta, D., Manganelli, Fiore, Siciliano, G., Beronio, A., Capello, E., Lanteri, P., Nobile-Orazio, E., Schenone, A., Benedetti, L., Nobbio, L.

المصدر: Journal of Neurology, Neurosurgery, and Psychiatry

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Guillain-Barre Syndrome, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Predictive Value of Tests, Internal medicine, medicine, Humans, Prospective Studies, 030304 developmental biology, Aged, 0303 health sciences, business.industry, Polyradiculoneuropathy, Middle Aged, medicine.disease, Sphingomyelins, Psychiatry and Mental health, Italy, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, ROC Curve, Neuromuscular, Biomarker (medicine), Surgery, Female, Neurology (clinical), Sphingomyelin, business, 030217 neurology & neurosurgery, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b549e86af9b8858c30d755cb6020310
http://hdl.handle.net/11567/1036346

المؤلفون: Giulia Ronchi, Giovanna Gambarotta, Stefano Geuna, Lucilla Nobbio, Giovanna Capodivento, Benedetta Elena Fornasari, Angelo Schenone, Isabelle Perroteau, Davide Visigalli, Davide Pascal

مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Male, Genetics and Molecular Biology (all), congenital, hereditary, and neonatal diseases and abnormalities, Receptor, ErbB-3, Receptor, ErbB-2, medicine.medical_treatment, Neuregulin-1, ErbB, Schwann cell, Neuregulin1 (NRG1), Biochemistry, General Biochemistry, Genetics and Molecular Biology, Pathogenesis, Rats, Sprague-Dawley, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, mental disorders, medicine, Animals, Neuregulin 1, Charcot-Marie-Tooth 1A (CMT1A), neuropathy, peripheral nerve, Biochemistry, Genetics and Molecular Biology (all), biology, Growth factor, Nerve injury, Cell biology, Up-Regulation, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Peripheral nerve injury, biology.protein, Female, Schwann Cells, medicine.symptom, Signal transduction, Brief Communications, Charcot-Marie-Tooth 1A (CMT1A), ErbB, Neuregulin1 (NRG1), Schwann cell, neuropathy, peripheral nerve, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::469b53d3b49f03c264cc2c4a372330a7
http://hdl.handle.net/2318/1663238

المؤلفون: Abdul Basit, Angelo Schenone, Michela Ferrara, Andrea Armirotti, Martina Garnero, Gianluigi Mancardi, Vito Paolo Pastore, Carlo Serrati, Giovanna Capodivento, Davide Visigalli, Elisabetta Capello, Roberto Fancellu, Silvano Garibaldi, Zeeshan Hamid, Lucilla Nobbio

المصدر: Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Science, Article, Myelin loss, Diagnosis, Differential, 03 medical and health sciences, Myelin, 0302 clinical medicine, Cerebrospinal fluid, Peripheral demyelination, Tandem Mass Spectrometry, medicine, Animals, Humans, In patient, Retrospective Studies, Multidisciplinary, business.industry, Peripheral Nervous System Diseases, Peripheral, Rats, Sphingomyelins, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Cross-Sectional Studies, Immunology, Medicine, Biomarker (medicine), Sphingomyelin, business, 030217 neurology & neurosurgery, Biomarkers, Chromatography, Liquid, Demyelinating Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d48425dbe112884e4685cb9e06cf592
http://europepmc.org/articles/PMC5552737

المؤلفون: Giovanna Capodivento, Davide Visigalli, Emilia Bellone, Gianluigi Mancardi, Lucilla Nobbio, Alessandro Geroldi, Davide Pareyson, Patrizio Castagnola, Angelo Schenone

المصدر: Human mutation. 37(1)

مصطلحات موضوعية: 0301 basic medicine, Protein isoform, congenital, hereditary, and neonatal diseases and abnormalities, Patients, Gene Expression, Mice, Transgenic, Biology, 03 medical and health sciences, Exon, Alternative splicing, CMT1A, Neuropathy, PMP22, QKI, Genetics, Genetics (clinical), 0302 clinical medicine, Transcription (biology), Charcot-Marie-Tooth Disease, Gene expression, Databases, Genetic, Animals, Humans, Peripheral Nerves, Cells, Cultured, Messenger RNA, Genetic heterogeneity, Computational Biology, Proteins, Cell biology, Rats, Alternative Splicing, Disease Models, Animal, 030104 developmental biology, RNA splicing, Cancer research, 030217 neurology & neurosurgery, Myelin Proteins, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2989a9871fcd907bfaddd924ccb8dd
https://pubmed.ncbi.nlm.nih.gov/26486801