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1دورية أكاديمية
المؤلفون: Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri
المصدر: Open Journal of Bioresources, Vol 1, p e2 (2014)
مصطلحات موضوعية: biobanking, biological resources centre, biospecimens, rare diseases, cryopreservation, Medicine, Computer applications to medicine. Medical informatics, R858-859.7
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D Duncan, Federico Zara, Hauke B Werner, Michael P Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti
المصدر: PLoS ONE, Vol 7, Iss 3, p e32180 (2012)
وصف الملف: electronic resource
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المؤلفون: Antonella Pini, Enzo Ricci, Marika Pane, Denise Cassandrini, Salvatore Messina, Carla Uggetti, Raffaele Pezzani, E. Mottarelli, Gaetano Tortorella, A. Toscano, Giacomo P. Comi, A. M. Laverda, Mongini T, Carlo Minetti, Laura Morandi, Marina Mora, Antonello Ruggieri, Enrico Bertini, Simona Saredi, Gessica Vasco, Isabella Moroni, Cristina Bruno, Eugenio Mercuri, Anna D'amico, P. Boffi, Carmela Scuderi, Angela Berardinelli, Maurizio Moggio, Roberta Biancheri, Filippo M. Santorelli, Carlo P. Trevisan, Chiara Aiello, Elena Pegoraro, Alessandra Tessa, Anna Pichiecchio
المصدر: Neurology. 93(8)
مصطلحات موضوعية: Pathology, Glycosylation, Bioinformatics, Compound heterozygosity, medicine.disease_cause, Mannosyltransferases, Muscular Dystrophies, WALKER-WARBURG-SYNDROME, Cohort Studies, chemistry.chemical_compound, Prevalence, Muscular dystrophy, Child, Dystroglycans, Genetics, Mutation, medicine.diagnostic_test, biology, Brain, Magnetic Resonance Imaging, Phenotype, Italy, Child, Preschool, FUKUTIN GENE-MUTATIONS, PROTEIN GENE, Population study, Female, CLINICAL SPECTRUM, ALPHA-DYSTROGLYCAN, medicine.medical_specialty, Adolescent, EYE-BRAIN DISEASE, N-Acetylglucosaminyltransferases, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Dystroglycan, Humans, ABNORMAL GLYCOSYLATION, Pentosyltransferases, Muscle, Skeletal, POMT2 MUTATIONS, Muscle biopsy, business.industry, Glycosyltransferases, Infant, Membrane Proteins, Proteins, Regret, medicine.disease, Fukutin, chemistry, POMGNT1 MUTATIONS, biology.protein, Neurology (clinical), business, MENTAL-RETARDATION
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75a57bbafa5ff8e2973a4b552718ec0
https://pubmed.ncbi.nlm.nih.gov/19299310 -
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المؤلفون: Tobias C. Walther, Xudong Wu, Stefania Assereto, Elisabetta Gazzerro, Federico Zara, Simona Baldassari, Jeremy M. Baskin, Romain Christiano, Mirko Messa, Karin M. Reinisch, Roberta Biancheri, Curtis M. Schauder, Mikael Simons, Carlo Minetti, Andrea Raimondi, Pietro De Camilli, Michael S. Oh
المصدر: Nature cell biology
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Plasma protein binding, Biology, Article, Pathogenesis, Mice, 03 medical and health sciences, chemistry.chemical_compound, Protein structure, Phosphatidylinositol Phosphates, medicine, Animals, Humans, Phosphatidylinositol, Gene, Cell Membrane, Leukodystrophy, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Cell Biology, medicine.disease, Protein Structure, Tertiary, Cell biology, Protein Transport, 030104 developmental biology, chemistry, Mutation, Function (biology)
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المؤلفون: Simona Porta, Giorgio Gimelli, Cristina Cuoco, Elisa Tassano, Laura Denegri, Roberta Biancheri, Orsetta Zuffardi, Francesca Novara
المصدر: European Journal of Medical Genetics. 57:626-629
مصطلحات موضوعية: Male, Heterozygote, Microcephaly, Karyotype, Biology, Bioinformatics, CHL1, Intellectual Disability, Genetics, medicine, Humans, Child, Gene, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, Gene map, Heterozygote advantage, General Medicine, medicine.disease, Chromosome 3, Immunoglobulin superfamily, Cell Adhesion Molecules, Gene Deletion, Comparative genomic hybridization
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المؤلفون: Alberto Gaiero, Roberta Biancheri, Mirella Filocamo, Marina Stroppiano, Federica Lanza, Raffaella Mazzotti, Amnon Cohen, Anna Costa, Andrea Rossi, Laura Siri
المصدر: neurogenetics; Vol 15
مصطلحات موضوعية: Male, Proband, Arylsulfatase A, RNA Splicing, Gene mutation, Biology, medicine.disease_cause, Saposins, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exon, 0302 clinical medicine, Genetics, medicine, Humans, Genetics (clinical), 030304 developmental biology, Prosaposin, 0303 health sciences, Mutation, Siblings, Homozygote, Leukodystrophy, Brain, Infant, Leukodystrophy, Metachromatic, medicine.disease, Molecular biology, 3. Good health, Metachromatic leukodystrophy, Morocco, Child, Preschool, 030217 neurology & neurosurgery
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المؤلفون: Roberta Biancheri, Andrea Rossi
المصدر: Neuroimaging Clinics of North America. 23:425-448
مصطلحات موضوعية: In vivo magnetic resonance spectroscopy, Magnetic Resonance Spectroscopy, Heterogeneous group, Brain Diseases, Metabolic, business.industry, Leukodystrophy, Representation (systemics), Brain, General Medicine, Nuclear magnetic resonance spectroscopy, medicine.disease, Leukoencephalopathy, White matter, Biopolymers, Nuclear magnetic resonance, medicine.anatomical_structure, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Neurology (clinical), business, Biomarkers
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المؤلفون: Marialaura Del Basso De Caro, Mariarosaria Cervasio, Massimo Del Sette, Mariasavina Severino, Angela Robbiano, Roberta Biancheri, Carlo Minetti, Michele Iacomino, Federico Zara, Pasquale Striano
المساهمون: Biancheri, R., Severino, M., Robbiano, A., Iacomino, M., Del Sette, M., Minetti, C., Cervasio, M., Del Basso De Caro, M., Striano, P., Zara, F.
المصدر: Neurology: Genetics
مصطلحات موضوعية: 0301 basic medicine, Fahr disease, Pathology, medicine.medical_specialty, PDGFRB, Basal ganglia calcification, medicine.disease_cause, White matter, 03 medical and health sciences, 0302 clinical medicine, medicine, Clinical/Scientific Notes, Genetics (clinical), Mutation, PDGFB, business.industry, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Neurology (clinical), business, 030217 neurology & neurosurgery, Calcification
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0bf107871a143133a312bba6d4c9eca
http://hdl.handle.net/11588/793384 -
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المؤلفون: Mirella Filocamo, Roberta Biancheri, Eleonora Lamantea, Laura Denegri, Federica Lanza, Mariasavina Severino, Francesca Pinto, Camillo Rosano
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Models, Molecular, Pelizaeus Merzbacher like disease, Pelizaeus-Merzbacher Disease, Protein Conformation, Mutation, Missense, Biology, medicine.disease_cause, Compound heterozygosity, Connexins, Article, Connexon, White matter, 03 medical and health sciences, GJC2, 0302 clinical medicine, Genetics, medicine, Humans, Missense mutation, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Brain, Infant, Pelizaeus–Merzbacher disease, medicine.disease, Hereditary Central Nervous System Demyelinating Diseases, medicine.anatomical_structure, Female, 030217 neurology & neurosurgery
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المؤلفون: Wyeth W. Wasserman, Roberta Biancheri, Maja Tarailo-Graovac, Linlea Armstrong, C. J. Ross, C. van Karnebeek, Graham Sinclair, Andrea Rossi, Casper Shyr
المساهمون: Other departments
المصدر: Neurogenetics, 15(3), 157-159. Springer Verlag
مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, Degenerative Disorder, Biology, Cellular and Molecular Neuroscience, Epilepsy, Myelin, Genetics, medicine, Humans, Genetics (clinical), Cerebral atrophy, Age Factors, Infant, Newborn, Brain, RNA-Binding Proteins, Neurodegenerative Diseases, medicine.disease, White Matter, Neoplasm Proteins, Epileptic spasms, medicine.anatomical_structure, Mutation, Cytokines, Female, Neuron, Differential diagnosis