المؤلفون: Nobile, Veronica, Pucci, Cecilia, Neri, Giovanni, Chiurazzi, Pietro, Giorgio, Valentina, Tabolacci, Elisabetta

المساهمون: Grandi, Martina, Galber, Chiara, Gatto, Cristina, Nobile, Veronica, Pucci, Cecilia, Schaldemose Nielsen, Ida, Boldrin, Francesco, Neri, Giovanni, Chiurazzi, Pietro, Solaini, Giancarlo, Baracca, Alessandra, Giorgio, Valentina, Tabolacci, Elisabetta

مصطلحات موضوعية: ATP synthase, apoptosis, donut-shape mitochondria, fragile-X-related disorders (FXDs), neurodegeneration, permeability transition pore, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38542395; info:eu-repo/semantics/altIdentifier/wos/WOS:001193361800001; volume:25; issue:6; firstpage:3421; lastpage:3437; numberofpages:17; issueyear:2024; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/10807/273221Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85189100497

الإتاحة: https://doi.org/10.3390/ijms25063421Test
https://hdl.handle.net/10807/273221Test

المؤلفون: Grandi, Martina, Galber, Chiara, Gatto, Cristina, Nobile, Veronica, Pucci, Cecilia, Schaldemose Nielsen, Ida, Boldrin, Francesco, Neri, Giovanni, Chiurazzi, Pietro, Solaini, Giancarlo, Baracca, Alessandra, Giorgio, Valentina, Tabolacci, Elisabetta

المصدر: International Journal of Molecular Sciences; Mar2024, Vol. 25 Issue 6, p3421, 16p

مصطلحات موضوعية: CELL death, MITOCHONDRIA, RNA-binding proteins, REACTIVE oxygen species, MITOCHONDRIAL proteins

المؤلفون: Romano, Nicla, Di Giacomo, Bruna, Nobile, Veronica, Borreca, Antonella, Willems, Daniela, Tilesi, Francesca, Catalani, Elisabetta, Agrawal, Manasi, Welshhans, Kristy, Ricciardi, Sara, Cervia, Davide, Ceci, Marcello

المصدر: Faculty Publications

مصطلحات موضوعية: neuron differentiation, RACK1, FMRP, translation, ribosomes, neurons, neuroblastoma, receptor-interacting protein, mental-retardation protein, messenger, RNAS, Kinase-C, growth, binding, phosphorylation, activation, proliferation, Medicine and Health Sciences, Pharmacy and Pharmaceutical Sciences

وصف الملف: application/pdf

العلاقة: https://scholarcommons.sc.edu/phar_facpub/138Test; https://scholarcommons.sc.edu/context/phar_facpub/article/1136/viewcontent/ijms_23_11857_v2.pdfTest

الإتاحة: https://doi.org/10.3390/ijms231911857Test;
https://doi.org/10.3390/ijms231911857Test
https://scholarcommons.sc.edu/phar_facpub/138Test
https://scholarcommons.sc.edu/context/phar_facpub/article/1136/viewcontent/ijms_23_11857_v2.pdfTest

المؤلفون: Yrigollen, Carolyn M, Pacini, Laura, Nobile, Veronica, Lozano, Reymundo, Hagerman, Randi J, Bagni, Claudia, Tassone, Flora

المصدر: Journal of Genetic Disorders & Genetic Reports. 2016(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Behavioral and Social Science, Mental Health, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Brain Disorders, Tuberous Sclerosis, Autism, Rare Diseases, Clinical Research, Pediatric, Aetiology, 2.1 Biological and endogenous factors, ERK1/2, Fragile X syndrome, Protein synthesis, Tuberous sclerosis, mTORC1

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6zj2v5xtTest

المؤلفون: Cencelli, Giulia, Pacini, Laura, De Luca, Anastasia, Messia, Ilenia, Gentile, Antonietta, Kang, Yunhee, Nobile, Veronica, Tabolacci, Elisabetta, Jin, Peng, Farace, Maria Giulia, Bagni, Claudia

المساهمون: Cencelli, G, Pacini, L, De Luca, A, Messia, I, Gentile, A, Kang, Y, Nobile, V, Tabolacci, E, Jin, P, Farace, Mg, Bagni, C

مصطلحات موضوعية: ADAM10, APP processing, Fragile X syndrome, SAP97, iPSCs, peptide therapy, protein synthesis, Settore BIO/13 - BIOLOGIA APPLICATA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36899894; info:eu-repo/semantics/altIdentifier/wos/WOS:000947466100001; volume:12; issue:5; journal:CELLS; https://hdl.handle.net/2108/321130Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149789952

الإتاحة: https://doi.org/10.3390/cells12050758Test
https://hdl.handle.net/2108/321130Test

المؤلفون: Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Nobile, Veronica, Pennacchio, Gaetana, Gurrieri, Fiorella, Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro

المساهمون: Fondazione Telethon, PRIN

المصدر: European Journal of Human Genetics ; volume 28, issue 5, page 567-575 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-019-0554-7Test
http://www.nature.com/articles/s41431-019-0554-7.pdfTest
http://www.nature.com/articles/s41431-019-0554-7Test

المؤلفون: Tabolacci, Elisabetta, Tringali, Giuseppe, Nobile, Veronica, Duca, Sara, Pizzoferrato, Michela, Bottoni, Patrizia, Maria Elisabetta, Clementi

المصدر: Antioxidants; Apr2023, Vol. 12 Issue 4, p820, 16p

مصطلحات موضوعية: NUCLEAR factor E2 related factor, RUTIN, PHOTOOXIDATIVE stress, FIBROBLASTS, CELL survival

المؤلفون: Tabolacci, Elisabetta, Maneri, Giulia, Nobile, Veronica, Genuardi, Maurizio, Neri, Giovanni, Chiurazzi, Pietro

المساهمون: Tabolacci, Elisabetta, Pietrobono, Roberta, Maneri, Giulia, Remondini, Laura, Nobile, Veronica, Della Monica, Matteo, Pomponi, Maria Grazia, Genuardi, Maurizio, Neri, Giovanni, Chiurazzi, Pietro

مصطلحات موضوعية: CGG instability, CGG reversion, FMR1 gene, fragile X syndrome, genetic test, Settore MED/03 - GENETICA MEDICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32111011; info:eu-repo/semantics/altIdentifier/wos/WOS:000529189000012; volume:11; issue:3; firstpage:248; lastpage:260; numberofpages:13; issueyear:2020; journal:GENES; http://hdl.handle.net/10807/147831Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081074667

الإتاحة: https://doi.org/10.3390/genes11030248Test
http://hdl.handle.net/10807/147831Test

المؤلفون: Tabolacci, Elisabetta, Molinario, Clelia, Marangi, Giuseppe, Nobile, Veronica, Arena, Vincenzo, Mendes, Marisa I., Smith, Desiree E.C., Salomons, Gajja S., Tana, Milena, Costa, Simonetta, Vento, Giovanni, Genuardi, Maurizio

المصدر: Tabolacci , E , Molinario , C , Marangi , G , Nobile , V , Arena , V , Mendes , M I , Smith , D E C , Salomons , G S , Tana , M , Costa , S , Vento , G & Genuardi , M 2021 , ' Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene : Clinical, genetic, and functional characterization ' , Clinical Genetics , vol. 99 , no. 4 , pp. 601-603 . https://doi.org/10.1111/cge.13893Test

العلاقة: https://research.vumc.nl/en/publications/b634550c-8779-4d61-aff9-aa41e1a9f07bTest

الإتاحة: https://doi.org/10.1111/cge.13893Test
https://research.vumc.nl/en/publications/b634550c-8779-4d61-aff9-aa41e1a9f07bTest
http://www.scopus.com/inward/record.url?scp=85097488330&partnerID=8YFLogxKTest

المؤلفون: Lo Vecchio, Filomena, Tabolacci, Elisabetta, Nobile, Veronica, Pomponi, Maria Grazia, Pietrobono, Roberta, Neri, Giovanni, Amenta, Simona, Candida, Ettore, Grippaudo, Cristina, Lo Cascio, Ettore, Vita, Alessia, Tiberio, Federica, Arcovito, Alessandro, Lattanzi, Wanda, Genuardi, Maurizio, Chiurazzi, Pietro

المصدر: Genes; Jul2022, Vol. 13 Issue 7, p1161-1161, 15p

مصطلحات موضوعية: FIBROBLAST growth factor 2, FIBROBLAST growth factor receptors, PHENOTYPES, FIBROBLAST growth factors