المؤلفون: Nicolina Cristina Sorrentino, Vincenzo Cacace, Maria De Risi, Veronica Maffia, Sandra Strollo, Novella Tedesco, Edoardo Nusco, Noemi Romagnoli, Domenico Ventrella, Yan Huang, Nan Liu, Susan L. Kalled, Vivian W. Choi, Elvira De Leonibus, Alessandro Fraldi

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 333-342 (2019)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050119301172; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/2d49ccd1afa048a9bc751084b264762d

المؤلفون: Irene Sambri, Rosa D'Alessio, Yulia Ezhova, Teresa Giuliano, Nicolina Cristina Sorrentino, Vincenzo Cacace, Maria De Risi, Mauro Cataldi, Lucio Annunziato, Elvira De Leonibus, Alessandro Fraldi

المصدر: EMBO Molecular Medicine, Vol 9, Iss 1, Pp 112-132 (2017)

مصطلحات موضوعية: lysosomes, lysosomal storage disorders, α‐synuclein, CSPα, neurodegeneration, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/d6770e39006d463a869765eb812fd706

المؤلفون: Antonella Capuozzo, Sandro Montefusco, Vincenzo Cacace, Martina Sofia, Alessandra Esposito, Gennaro Napolitano, Eduardo Nusco, Elena Polishchuk, Maria Teresa Pizzo, Maria De Risi, Elvira De Leonibus, Nicolina Cristina Sorrentino, Diego Luis Medina

المساهمون: Capuozzo, A., Montefusco, S., Cacace, V., Sofia, M., Esposito, A., Napolitano, G., Nusco, E., Polishchuk, E., Pizzo, M. T., De Risi, M., De Leonibus, E., Sorrentino, N. C., MEDINA SANABRIA, Diego Luis

المصدر: Mol Ther

مصطلحات موضوعية: Pharmacology, autophagy, TFEB, MPS-IIIA, drug repurposing, Animal, Hydrolases, Hydrolase, Fibroblasts, Disease Models, Animal, Mice, Mucopolysaccharidosis III, Fluoxetine, Drug Discovery, Genetics, high content imaging, Fibroblast, Animals, Molecular Medicine, lysosomal storage disorder, Original Article, Heparitin Sulfate, lysosomal exocytosi, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac3f587c91126773c40abf800d88d65d
https://doi.org/10.1016/j.ymthe.2022.01.037

المؤلفون: Edoardo Nusco, Irene Sambri, Vincenzo Cacace, Veronica Maffia, Antonio Monaco, Frank-Gerrit Klärner, Alessandro Fraldi, Yulia Ezhova, Nicolina Cristina Sorrentino, Gal Bitan, Teresa Giuliano, Elvira De Leonibus, Maria De Risi, Thomas Schrader

المساهمون: Monaco, A., Maffia, V., Sorrentino, N. C., Sambri, I., Ezhova, Y., Giuliano, T., Cacace, V., Nusco, E., De Risi, M., De Leonibus, E., Schrader, T., Klarner, F. -G., Bitan, G., Fraldi, A.

المصدر: Molecular Therapy
Molecular therapy : the journal of the American Society of Gene Therapy, vol 28, iss 4

مصطلحات موضوعية: Male, Aging, Technology, Mucopolysaccharidosis, Neurodegenerative, molecular tweezer, Alzheimer's Disease, Medical and Health Sciences, Mice, Mucopolysaccharidosis III, 0302 clinical medicine, Drug Discovery, Lysosomal storage disease, 2.1 Biological and endogenous factors, Alzheimer's Disease including Alzheimer's Disease Related Dementias, Mucopolysaccharidosis Type IIIA, 0303 health sciences, Neurodegeneration, Brain, Neurodegenerative Diseases, Biological Sciences, Organophosphates, Treatment Outcome, Infectious Diseases, lysosomal storage disease, 030220 oncology & carcinogenesis, Cell Body, Neurological, Molecular Medicine, Original Article, Biotechnology, Bridged-Ring Compounds, Amyloid, autophagy, amyloid aggregation, molecular tweezers, Chemie, Neuropathology, 03 medical and health sciences, Rare Diseases, medicine, Acquired Cognitive Impairment, Genetics, Animals, Molecular Biology, Neuroinflammation, 030304 developmental biology, Pharmacology, business.industry, Autophagy, Neurosciences, mucopolysaccharidosis type IIIA, Mucopolysaccharidoses, medicine.disease, Brain Disorders, Disease Models, Animal, Orphan Drug, Cancer research, Dementia, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6803f3f17b23940eec5eb5563a48585c
https://doi.org/10.1016/j.ymthe.2022.10.001

المؤلفون: Nicolina Cristina Sorrentino, Maximiliano Presa, Sergio Attanasio, Vincenzo Cacace, Martina Sofia, Aamir Zuberi, Jennifer Ryan, Somdatta Ray, Igor Petkovic, Karthikeyan Radhakrishnan, Lars Schlotawa, Andrea Ballabio, Cathleen Lutz, Nicola Brunetti‐Pierri

المساهمون: Sorrentino, Nicolina Cristina, Presa, Maximiliano, Attanasio, Sergio, Cacace, Vincenzo, Sofia, Martina, Zuberi, Aamir, Ryan, Jennifer, Ray, Somdatta, Petkovic, Igor, Radhakrishnan, Karthikeyan, Schlotawa, Lar, Ballabio, Andrea, Lutz, Cathleen, Brunetti-Pierri, Nicola

مصطلحات موضوعية: formylglycine generating enzyme, sulfatase modifying factor 1, Genetics, multiple sulfatase deficiency, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359ad552e9c60939652ca0a1098ebeaa
https://hdl.handle.net/11588/906865

المؤلفون: Nicolina C. Sorrentino, Vincenzo Cacace, Veronica Maffia, Sandra Strollo, Novella Tedesco, Edoardo Nusco, Noemi Romagnoli, Domenico Ventrella, Francesca Barone, Maria laura Bacci, Yan Huang, Nan Liu, Susan Kalled, Vivian Choi, Alessandro Fraldi

المساهمون: Nicolina C. Sorrentino, Vincenzo Cacace, Veronica Maffia, Sandra Strollo, Novella Tedesco, Edoardo Nusco, Noemi Romagnoli, Domenico Ventrella, Francesca Barone, Maria laura Bacci, Yan Huang, Nan Liu, Susan Kalled, Vivian Choi, Alessandro Fraldi, Sorrentino, Nicolina C., Cacace, Vincenzo, Maffia, Veronica, Strollo, Sandra, Tedesco, Novella, Nusco, Edoardo, Romagnoli, Noemi, Ventrella, Domenico, Barone, Francesca, laura Bacci, Maria, Huang, Yan, Liu, Nan, Kalled, Susan, Choi, Vivian, Fraldi, Alessandro, Nicolina C. Sorrentino, Vincenzo Cacace, Veronica Maffia, Sandra Strollo, Novella Tedesco, Edoardo Nusco, Noemi Romagnoli, Domenico Ventrella, Francesca Barone, Maria laura Bacci, Yan Huang, Nan Liu, Susan Kalled, Vivian Choi, Alessandro Fraldi

مصطلحات موضوعية: Gene Therapy, MPS IIIA, Mice, Intra-CSF injection

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b52b00c9a0fcffbf18aac2f0b0ee7b8e
http://hdl.handle.net/11588/756658

المؤلفون: Francesco Dondi, Noemi Romagnoli, Yan Huang, Alberto Auricchio, Susan L. Kalled, Domenico Ventrella, Massimo Giunti, Anna Manfredi, Veronica Maffia, Anne Renee Graham, Sandra Strollo, Nicolina Cristina Sorrentino, Enrico Maria Surace, Francesca Barone, Vincenzo Cacace, Maria Laura Bacci, Alessandro Fraldi

المساهمون: Sorrentino, Nicolina Cristina, Maffia, Veronica, Strollo, Sandra, Cacace, Vincenzo, Romagnoli, Noemi, Manfredi, Anna, Ventrella, Domenico, Dondi, Francesco, Barone, Francesca, Giunti, Massimo, Graham, Anne-Renee, Huang, Yan, Kalled, Susan L, Auricchio, Alberto, Bacci, Maria Laura, Surace, Enrico Maria, Fraldi, Alessandro, Nicolina, C. Sorrentino, Veronica, Maffia, Alessandra, Strollo, Vincenzo, Cacace, Noemi, Romagnoli, Anna, Manfredi, Domenico, Ventrella, Francesco, Dondi, Francesca, Barone, Massimo, Giunti, Anne-Renee, Graham, Yan, Huang, Susan, Kalled, Alberto, Auricchio, Maria Laura, Bacci, Enrico Maria, Surace, Alessandro, Fraldi, Graham, Anne Renee

المصدر: Molecular Therapy. 24:276-286

مصطلحات موضوعية: Central Nervous System, 0301 basic medicine, Swine, viruses, Transgene, Genetic Vectors, Green Fluorescent Proteins, Central nervous system, Biology, Serogroup, medicine.disease_cause, law.invention, Transduction, 03 medical and health sciences, Transduction (genetics), Cerebrospinal fluid, Genetic, Transduction, Genetic, law, Drug Discovery, Genetics, medicine, Animals, Humans, Transgenes, Molecular Biology, Adeno-associated virus, Tropism, Pharmacology, Drug Discovery3003 Pharmaceutical Science, Gene Transfer Techniques, Dependovirus, AAV serotype, pig aav SNC transduction Map, Virology, 030104 developmental biology, medicine.anatomical_structure, Organ Specificity, Immunology, Recombinant DNA, Molecular Medicine, Original Article, SNC

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02dc0354f002b3df81d6a73f2a8b57f
https://doi.org/10.1038/mt.2015.212

المؤلفون: Irene Sambri, Maria De Risi, Lucio Annunziato, Teresa Giuliano, Alessandro Fraldi, Nicolina Cristina Sorrentino, Mauro Cataldi, Rosa D'Alessio, Elvira De Leonibus, Vincenzo Cacace, Yulia Ezhova

المساهمون: Sambri, Irene, D'Alessio, Rosa, Ezhova, Yulia, Giuliano, Teresa, Sorrentino, Nicolina Cristina, Cacace, Vincenzo, De Risi, Maria, Cataldi, Mauro, Annunziato, Lucio, De Leonibus, Elvira, Fraldi, Alessandro

المصدر: EMBO molecular medicine
9 (2017): 112–132. doi:10.15252/emmm.201606965
info:cnr-pdr/source/autori:Sambri, Irene; D'Alessio, Rosa; Ezhova, Yulia; Giuliano, Teresa; Sorrentino, Nicolina Cristina; Cacace, Vincenzo; De Risi, Maria; Cataldi, Mauro; Annunziato, Lucio; De Leonibus, Elvira; Fraldi, Alessandro/titolo:Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases/doi:10.15252%2Femmm.201606965/rivista:EMBO molecular medicine (Print)/anno:2017/pagina_da:112/pagina_a:132/intervallo_pagine:112–132/volume:9
EMBO Molecular Medicine

مصطلحات موضوعية: 0301 basic medicine, Central nervous system, Presynaptic Terminals, Biology, Synaptic vesicle, lysosomal storage disorders, Synapse, Mice, 03 medical and health sciences, chemistry.chemical_compound, lysosomes, CSP, medicine, Animals, Synaptic vesicle recycling, Receptor, Mucopolysaccharidosis Type IIIA, Research Articles, Alpha-synuclein, α‐synuclein, Neurodegeneration, neurodegeneration, Membrane Proteins, Neurodegenerative Diseases, CSPα, HSP40 Heat-Shock Proteins, medicine.disease, Cell biology, Lysosomal Storage Diseases, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, chemistry, Biochemistry, Proteolysis, lysosome, alpha-Synuclein, Molecular Medicine, lysosomal storage disorder, Genetics, Gene Therapy & Genetic Disease, Synaptic Vesicles, synuclein, SNARE Proteins, Research Article, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2505eb7dd13ee3171118501173f8b338
https://doi.org/10.15252/emmm.201606965

المؤلفون: Paola Ungaro, Nicola Improda, Silvio Desiderio, Mariacarolina Salerno, Paolo Emidio Macchia, Vincenzo Cacace, Luigi Albano, A. Colao, Immacolata Cristina Nettore, E. De Nisco

المساهمون: Nettore, I. C., Desiderio, S., de Nisco, E., Cacace, V., Albano, L., Improda, N., Ungaro, P., Salerno, M., Colao, A., Macchia, P. E.

المصدر: Journal of endocrinological investigation (Testo stamp.) 41 (2018): 711–717. doi:10.1007/s40618-017-0795-7
info:cnr-pdr/source/autori:Nettore I.C.; Desiderio S.; De Nisco E.; Cacace V.; Albano L.; Improda N.; Ungaro P.; Salerno M.; Colao A.; Macchia P.E./titolo:High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis/doi:10.1007%2Fs40618-017-0795-7/rivista:Journal of endocrinological investigation (Testo stamp.)/anno:2018/pagina_da:711/pagina_a:717/intervallo_pagine:711–717/volume:41

مصطلحات موضوعية: 0301 basic medicine, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Thyroid Nuclear Factor 1, 030209 endocrinology & metabolism, Biology, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Thyroid dysgenesis, High Resolution Melt, PAX8 Transcription Factor, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, medicine, Humans, Allele, Child, thyroid dysgenesis, Genetics, Mutation, Thyroid, DNAJC17, Thyroid dysgenesi, HSP40 Heat-Shock Proteins, Prognosis, medicine.disease, Molecular biology, Congenital hypothyroidism, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Female, PAX8, Biomarkers, Human

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9e3e9ce4645b51dd123fde33adad77
http://www.cnr.it/prodotto/i/389708

المؤلفون: Luca Casone, Lorenzo Donatiello, Marco Di Felice, Vincenzo Cacace, Danilo Blasi, Salvatore Rotolo, Luciano Bononi

المساهمون: L. Bononi, M. Di Felice, L. Donatiello, D. Blasi, V. Cacace, L. Casone, S. Rotolo

المصدر: Performance Evaluation. 63:1051-1073

مصطلحات موضوعية: CROSS-LAYERING PROTOCOL ARCHITECTURE, Vehicular ad hoc network, Adaptive quality of service multi-hop routing, Computer Networks and Communications, Computer science, business.industry, Wireless ad hoc network, Distributed computing, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Wireless Routing Protocol, Mobile ad hoc network, Ad hoc wireless distribution service, DIFFERENTIATED MEDIUM ACCESS CONTROL, Optimized Link State Routing Protocol, Hardware and Architecture, Modeling and Simulation, MOBILE AD HOC NETWORK, Computer Science::Networking and Internet Architecture, CLUSTERING SCHEME, business, Cluster analysis, Software, Computer network

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b29dd06b5dceddaa01574a407f4134c
https://doi.org/10.1016/j.peva.2006.05.007