المؤلفون: Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai, Stefano Gambardella

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: POLR3A mutations, Hypomyelinating leukodystrophies, Age of onset, Brain, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12883-020-01835-9Test; https://doaj.org/toc/1471-2377Test

الوصول الحر: https://doaj.org/article/c9a2937bf28f45e29939108f706d3121Test

المؤلفون: Marianna Storto, Rosa Campopiano, Emiliano Giardina, Mirco Fanelli, Francesca Biagioni, Diego Centonze, Claudio Colonnese, Stefano Gambardella, Fabio Buttari, Vania Broccoli, Francesco Fornai, Edoardo Fraviga, Stefania Zampatti, Rosangela Ferese

المصدر: BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Neurology

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neurology, Genotype, Age of onset, POLR3A mutations, Case Report, Settore MED/26, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Cephalalgia, medicine, Humans, Sibling, book, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, Dystonia, 0303 health sciences, book.periodical, business.industry, Siblings, Leukodystrophy, RNA Polymerase III, Brain, General Medicine, Hypomyelinating leukodystrophies, medicine.disease, Magnetic Resonance Imaging, White Matter, Hypotonia, Hereditary Central Nervous System Demyelinating Diseases, Mutation, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6efb72e48e4989f6a9d92a896d2d90Test
https://doi.org/10.1186/s12883-020-01835-9Test

المؤلفون: Angelo Iannielli, Laura Passeri, Benjamin E. Deverman, Mirko Luoni, Fabio Russo, Piera Calamita, Serena Giannelli, Silvia Gregori, Luca Massimino, Giuseppe Morabito, Antonio Niro, Vania Broccoli, Marzia Indrigo

المصدر: eLife
eLife, Vol 9 (2020)

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Mouse, QH301-705.5, Methyl-CpG-Binding Protein 2, Science, Transgene, Genetic enhancement, Mutant, Gene Expression, Rett syndrome, Mice, Transgenic, Biology, neuronal disease, General Biochemistry, Genetics and Molecular Biology, MECP2, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Gene duplication, Gene expression, mental disorders, medicine, Rett Syndrome, Animals, Transgenes, Biology (General), General Immunology and Microbiology, General Neuroscience, Brain, AAV, General Medicine, Genetic Therapy, medicine.disease, gene therapy, nervous system diseases, Disease Models, Animal, 030104 developmental biology, Gene Expression Regulation, Mutation, Cancer research, Medicine, intellectual disabilities, 030217 neurology & neurosurgery, Research Article, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975a2a5712d8feeda19605c6f1f7df9dTest
http://europepmc.org/articles/PMC7117907Test

المؤلفون: Alessandro Sessa, Luca Massimino, Marc Baumann, Fabio Stagno, Sara Redaelli, Francesco Onida, Francesco Passamonti, Emilio Usala, Delphine Rea, Leonardo Campiotti, Alicia Rubio, Alessandra Pirola, Vera Magistroni, Bruno Martino, Michele Merli, Vania Broccoli, Mario Mauri, Maciej Lalowski, Marco Peronaci, Marco Bregni, Rabah Soliymani, Alessandro Morotti, Rocco Piazza, Carlo Gambacorti-Passerini, Federica Banfi, Francesca Pavesi, Caterina Mezzatesta

المساهمون: Piazza, R, Magistroni, V, Redaelli, S, Mauri, M, Massimino, L, Sessa, A, Peronaci, M, Lalowski, M, Soliymani, R, Mezzatesta, C, Pirola, A, Banfi, F, Rubio, A, Rea, D, Stagno, F, Usala, E, Martino, B, Campiotti, L, Merli, M, Passamonti, F, Onida, F, Morotti, A, Pavesi, F, Bregni, M, Broccoli, V, Baumann, M, Gambacorti-Passerini, C, Medicum, Department of Biochemistry and Developmental Biology, University of Helsinki, Marc Baumann / Principal Investigator

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature Communications

مصطلحات موضوعية: 0301 basic medicine, General Physics and Astronomy, Epigenesis, Genetic, Craniofacial Abnormalities, Congenital, Mice, MED/15 - MALATTIE DEL SANGUE, Gene expression, Promoter Regions, Genetic, lcsh:Science, Tumor, Multidisciplinary, Leukemia, CHIP-SEQ, Brain, Nuclear Proteins, Cell biology, KMT2A, atypical chronic myeloid leukemia, Atypical chronic myeloid leukemia, INTEGRATION SITE 1, Abnormalities, MYELOMONOCYTIC LEUKEMIA, Hand Deformities, Congenital, STEM-CELLS, Multiple, Protein Binding, EXPRESSION, Abnormalities, Multiple, Animals, Carrier Proteins, Cell Line, Tumor, Gene Ontology, HEK293 Cells, Humans, Intellectual Disability, Nails, Malformed, Neurogenesis, Gene Expression Profiling, Mutation, MECOM, Science, 3122 Cancers, SETBP1, ACUTE MYELOID-LEUKEMIA, Biology, SECONDARY MUTATIONS, Article, General Biochemistry, Genetics and Molecular Biology, Cell Line, PHF6 MUTATIONS, Promoter Regions, 03 medical and health sciences, Germline mutation, Genetic, medicine, Epigenetics, Gene, SCHINZEL-GIEDION SYNDROME, Malformed, General Chemistry, Hand Deformities, medicine.disease, SELF-RENEWAL, 030104 developmental biology, Nails, biology.protein, lcsh:Q, 3111 Biomedicine, Brain morphogenesis, Epigenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e65d096c6ee81cee636c19700083929aTest
https://doaj.org/article/ba93d3f63f634212b28426582bbfc01bTest

المؤلفون: Ida Biunno, Alessandro Sessa, Luciano Conti, Andrea Barbieri, Pasquale De Blasio, Vania Broccoli, Marina Cardano, Giuseppe R. Diaferia, Simona Baronchelli

المصدر: Journal of Cellular Physiology. 233:3152-3163

مصطلحات موضوعية: 0301 basic medicine, Physiology, Clinical Biochemistry, Neovascularization, Physiologic, Biology, 03 medical and health sciences, Vasculogenesis, Neural Stem Cells, SOX2, Animals, Cell Lineage, Cell Self Renewal, Cell Proliferation, Progenitor, Mice, Knockout, Genome, Receptors, Notch, Intracellular Signaling Peptides and Proteins, Brain, Proteins, Cell Biology, Nestin, Embryonic stem cell, Neural stem cell, Cell biology, Corticogenesis, 030104 developmental biology, Stem cell, Transcriptome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972d6d70cd0b6aabbedf32cf2bd53c10Test
https://doi.org/10.1002/jcp.26153Test

المؤلفون: Alessandra Fasciani, Massimiliano Andreazzoli, Luca Massimino, C Pucci, Stefano Taverna, Luca Fagnocchi, Mattia Zaghi, Giuseppina Mastrototaro, Romina Belli, Vania Broccoli, Alessio Zippo, Alessandro Sessa, Stefano Cattaneo, Davide Martini, Marzia Indrigo, Chiara Gabellini

مصطلحات موضوعية: 0301 basic medicine, Transcription Elongation, Genetic, RNA Splicing, autism spectrum disorders, Biology, Epigenesis, Genetic, neural development, Mice, 03 medical and health sciences, Cognition, 0302 clinical medicine, Neural Stem Cells, Transcription (biology), Animals, RNA-Seq, Epigenetics, Social Behavior, Zebrafish, Gene, Behavior, Animal, epigenetics, General Neuroscience, Brain, Gene Expression Regulation, Developmental, Methyltransferases, SETD5, Zebrafish Proteins, biology.organism_classification, Chromatin, Neural stem cell, Cell biology, Histone Code, 030104 developmental biology, intellectual disability, Mutation, Histone Methyltransferases, Chromatin Immunoprecipitation Sequencing, Haploinsufficiency, Neural development, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd19d9a1a6b442b1fde811b32b5440bTest
http://hdl.handle.net/11568/1005272Test

المؤلفون: Cinzia Cancellieri, Marco Bacigaluppi, Alessandro Sessa, Stefano Cattaneo, Simone Bido, Marzia Indrigo, Gabriele Ordazzo, Vania Broccoli, Giuseppe Morabito, José L. Lanciego, Serena Giannelli, Stefano Taverna, Letizia Leocani, Tommaso Cabassi, Mirko Luoni, Valerio Castoldi

المساهمون: Morabito, Giuseppe, Giannelli, Serena G., Ordazzo, Gabriele, Bido, Simone, Castoldi, Valerio, Indrigo, Marzia, Cabassi, Tommaso, Cattaneo, Stefano, Luoni, Mirko, Cancellieri, Cinzia, Sessa, Alessandro, Bacigaluppi, Marco, Taverna, Stefano, Leocani, ANNUNZIATA MARIA LETIZIA, Lanciego, Josã© L., Broccoli, Vania

مصطلحات موضوعية: 0301 basic medicine, Nervous system, Genetic enhancement, viruses, Parkinson's disease, Gene Expression, Neurodegenerative disease, Tuberous Sclerosis Complex 1 Protein, Transduction (genetics), Mice, Transduction, Genetic, Drug Discovery, Gene Order, Neurons, beta-Glucosidase, Gene Transfer Techniques, Brain, Electroencephalography, AAV, Dependovirus, medicine.anatomical_structure, Tuberous sclerosi, Blood-Brain Barrier, Peripheral nervous system, alpha-Synuclein, Molecular Medicine, Original Article, Genetically modified mouse, DREADD receptor, Genetic Vectors, Mice, Transgenic, Biology, Synucleinopathy, 03 medical and health sciences, Gene therapy, Genetic, Genetics, medicine, Animals, Humans, Molecular Biology, Synucleinopathies, Pharmacology, Tumor Suppressor Proteins, Drug Discovery3003 Pharmaceutical Science, Genetic Therapy, Tsc1, Enzyme Activation, Disease Models, Animal, 030104 developmental biology, Immunology, Forebrain, TSC1, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d33094bb4da9c3ca97b9e493bd002bcTest
https://www.journals.elsevier.com/molecular-therapyTest

المؤلفون: Liudmila Mus, Elena Dvoretskova, Ilda Theka, Damiana Leo, Alexander Dityatev, Raul R. Gainetdinov, Vania Broccoli, Gaia Colasante, Maria Teresa Dell’Anno, Stefano Taverna, Giovanni Russo, Serena Giannelli, Fabio Benfenati, Massimiliano Caiazzo, Gianni Pezzoli, Lucian Medrihan

المساهمون: Dell'Anno, Maria Teresa, Caiazzo, Massimiliano, Leo, Damiana, Dvoretskova, Elena, Medrihan, Lucian, Colasante, Gaia, Giannelli, Serena, Theka, Ilda, Russo, Giovanni, Mus, Liudmila, Pezzoli, Gianni, Gainetdinov, Raul R, Benfenati, Fabio, Taverna, Stefano, Dityatev, Alexander, Broccoli, Vania

المصدر: The journal of clinical investigation 124(7), 3215-3229 (2014). doi:10.1172/JCI74664

مصطلحات موضوعية: Male, Dopamine, Cell, drug effects [Dopaminergic Neurons], physiopathology [Brain], pathology [Parkinsonian Disorders], Pharmacology, Designer Drugs, Cell therapy, Mice, pathology [Brain], analogs & derivatives [Clozapine], Premovement neuronal activity, metabolism [Dopamine], Clozapine, Mice, Knockout, Dopaminergic, Brain, Parkinsonian Disorder, genetics [Cell Transdifferentiation], General Medicine, transplantation [Dopaminergic Neurons], medicine.anatomical_structure, physiopathology [Parkinsonian Disorders], Female, Rats, Transgenic, Dopaminergic Neuron, Reprogramming, Human, Research Article, medicine.drug, Cell signaling, Designer Drug, Biology, Parkinsonian Disorders, pharmacology [Clozapine], medicine, Animals, Humans, ddc:610, physiology [Dopaminergic Neurons], therapy [Parkinsonian Disorders], Animal, Dopaminergic Neurons, Electrophysiological Phenomena, Rats, Disease Models, Animal, nervous system, clozapine N-oxide, Cell Transdifferentiation, Rat, Neuron, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ddbf0311b5f91393ed619b666d24a3aTest
https://doi.org/10.1172/jci74664Test

المؤلفون: Manuel Alvarez Dolado, Vania Broccoli

المساهمون: Ministerio de Ciencia e Innovación (España), Ministero della Salute, Fondazione Cariplo, European Commission

المصدر: Neural Plasticity, Vol 2011 (2011)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Neural Plasticity

مصطلحات موضوعية: Cell type, ComputingMilieux_LEGALASPECTSOFCOMPUTING, Review Article, Biology, Inhibitory postsynaptic potential, gamma-Aminobutyric acid, lcsh:RC321-571, Neuroplasticity, medicine, Humans, Regeneration, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Neurons, Regeneration (biology), Gamma-aminobutyric acid, Stem cell transplantation, Brain, Nervous system diseases, Embryonic stem cell, Neurology, Neuronal plasticity, Data_GENERAL, Excitatory postsynaptic potential, GABAergic, Neurology (clinical), Neuroscience, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097d5aa9c4f4d4fcdf1013ac542fbb3fTest
https://doi.org/10.1155/2011/384216Test

المؤلفون: Jian Ping Zhao, Ole Isacson, Eva Hedlund, Rudolf Jaenisch, Dongdong Fu, Frank Soldner, Marius Wernig, Jan Pruszak, Martha Constantine-Paton, Vania Broccoli

المصدر: Proceedings of the National Academy of Sciences. 105:5856-5861

مصطلحات موضوعية: Pluripotent Stem Cells, Biology, Kruppel-Like Factor 4, Mice, SOX2, Culture Techniques, Animals, Induced pluripotent stem cell, Cell potency, Neurons, Multidisciplinary, Behavior, Animal, Brain, Cell Differentiation, Parkinson Disease, Biological Sciences, Fibroblasts, Embryonic stem cell, Rats, Electrophysiology, Neuroepithelial cell, Transplantation, P19 cell, Immunology, Reprogramming, Neuroscience, Stem Cell Transplantation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9cd0dae24fcc31f0667eaf153dd51a7Test
https://doi.org/10.1073/pnas.0801677105Test