Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Simone, Martinelli"'
Autor:
Emilia Stellacci, Simone Martinelli, Pietro Carbone, Elena Demuru, Maurizio Genuardi, Paola Ghiorzo, Giuseppe Novelli, Alessandra Di Pucchio, Federica Maria Regini, Debora Guerrera, Andrea Vittozzi, Donatella Barbina, Serenella Venanzi, Marc van den Bulcke, Stefania Boccia, Alfonso Mazzaccara, Arcangela De Nicolo, Roberta De Angelis
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
BackgroundGenetic and genomic literacy of health professionals is of utmost importance to realize the full potential of personalized medicine. As part of a European Union project, we piloted an e-learning course on oncogenomics, primarily targeted to
Externí odkaz:
https://doaj.org/article/860e32b968574643ad6eb1fc69c5b22d
Autor:
Maria Cristina Benedetti, Tiziano D'andrea, Alessio Colantoni, Denis Silachev, Valeria de Turris, Zaira Boussadia, Valentina A. Babenko, Egor A. Volovikov, Lilia Belikova, Alexandra N. Bogomazova, Rita Pepponi, Dosh Whye, Elizabeth D. Buttermore, Gian Gaetano Tartaglia, Maria A. Lagarkova, Vladimir L. Katanaev, Ilya Musayev, Simone Martinelli, Sergio Fucile, Alessandro Rosa
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26656- (2024)
Pathogenic variants in the GNAO1 gene, encoding the alpha subunit of an inhibitory heterotrimeric guanine nucleotide-binding protein (Go) highly expressed in the mammalian brain, have been linked to encephalopathy characterized by different combinati
Externí odkaz:
https://doaj.org/article/9c89d53e3ca84cf1b006547afe2a7973
Autor:
Fulvio Fraticelli, Federica Franco, Simone Martinelli, Sergio Muratore, Nicola Larroux, Alessandro Pavesi
Publikováno v:
Rivista Italiana di Ornitologia - Research in Ornithology, Vol 93, Iss 1 (2023)
This short report describes two cases of predation carried out by Merlin Falco columbarius in open sea, highlighting the ability of this species to feed during active migration.
Externí odkaz:
https://doaj.org/article/22c97194f23a446798cbd062a2629cc6
Autor:
Luca Pannone, Valentina Muto, Francesca Nardecchia, Martina Di Rocco, Emilia Marchei, Federica Tosato, Stefania Petrini, Giada Onorato, Enrico Lanza, Lucia Bertuccini, Filippo Manti, Viola Folli, Serena Galosi, Elia Di Schiavi, Vincenzo Leuzzi, Marco Tartaglia, Simone Martinelli
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
De novo CLTC mutations underlie a spectrum of early-onset neurodevelopmental phenotypes having developmental delay/intellectual disability (ID), epilepsy, and movement disorders (MD) as major clinical features. CLTC encodes the widely expressed heavy
Externí odkaz:
https://doaj.org/article/fcf6667d12e3415192a604598d029ea0
Autor:
Enrico Lanza, Martina Di Rocco, Silvia Schwartz, Davide Caprini, Edoardo Milanetti, Giuseppe Ferrarese, Maria Teresa Lonardo, Luca Pannone, Giancarlo Ruocco, Simone Martinelli, Viola Folli
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract Chemosensory receptors play a crucial role in distinguishing the wide range of volatile/soluble molecules by binding them with high accuracy. Chemosensation is the main sensory modality in organisms lacking long-range sensory mechanisms like
Externí odkaz:
https://doaj.org/article/cce7c2894e8d4308a4f73ba23829bbfc
Autor:
Serena Galosi, Luca Pollini, Maria Novelli, Katerina Bernardi, Martina Di Rocco, Simone Martinelli, Vincenzo Leuzzi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Over the last years, a constantly increasing number of genetic diseases associated with epilepsy and movement disorders have been recognized. An emerging group of conditions in this field is represented by genetic disorders affecting G-protein-couple
Externí odkaz:
https://doaj.org/article/2f6781d6cdeb48f689b72d476437e346
Autor:
Francesco Nicita, Fabrizia Stregapede, Federica Deodato, Simone Pizzi, Simone Martinelli, Daria Pagliara, Chiara Aiello, Francesca Cumbo, Fiorella Piemonte, Jessica D’Amico, Stefano Pro, Daniela Longo, Silvia Genovese, Marco Tartaglia, Maria L. Escolar, Enrico Bertini, Lorena Travaglini
Publikováno v:
European Journal of Human Genetics. 30:984-988
Krabbe disease (KD) is a rare lysosomal storage disorder caused by biallelic pathogenic variants in GALC. Most patients manifest the severe classic early-infantile form, while a small percentage of cases have later-onset types. We present two sibling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66310a2e254a3087c801bfbd09d9015c
https://doi.org/10.1038/s41431-022-01111-z
https://doi.org/10.1038/s41431-022-01111-z
Autor:
Daniëlle G. M. Bosch, Nicole Corsten-Janssen, Colin A Ellis, Dirk Lefeber, Alfredo Brusco, Irene Bagnasco, Andrea Accogli, Ellen Macnamara, Carlo Di Bonaventura, Giovanna Zorzi, Scott Demarest, Erik A. Eklund, Noëlle Mercier, Carlo Marcelis, Rong Zhang, Ban H Edani, Camilo Toro, Ziv Gan-Or, Simone Pizzi, Kariona A. Grabińska, Nienke E. Verbeek, Karen W. Gripp, Simone Martinelli, Caterina Caputi, Luca Pannone, Marco Tartaglia, Felix Distelmaier, Louise Amlie-Wolf, Luisa Averdunk, Anne-Sophie Alaix, Renzo Guerrini, Laura Masuelli, Marwan Shinawi, Sunita Venkateswaran, Joseph Peeden, Hana Hansikova, Lucie Zdrazilova, William C. Sessa, Serena Galosi, Renske Oegema, Patricia G Wheeler, Kristin W. Barañano, Vincenzo Leuzzi, Frances Elmslie, Fadi F. Hamdan, Roberto Bei, Jean-Marc Good, Isis Atallah, Myriam Srour, Erik-Jan Kamsteeg
Publikováno v:
Brain, 145, 1, pp. 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223
Brain
Brain, 145(1), 208-223. Oxford University Press
Brain, vol. 145, no. 1, pp. 208-223
Brain, 145, 208-223
Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear besides being involved in protein glycosylation. DHDDS encodes for the catalytic subunit (DHDDS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012cb40531119a7d00e4415b8540c52c
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d
https://research.rug.nl/en/publications/50de5bd9-24f7-4573-b0f2-fed69db9588d
Autor:
Leonardo Setti, Enrico Francia, Andrea Pulvirenti, Riccardo De Leo, Simone Martinelli, Lara Maistrello, Laura Ioana Macavei, Monia Montorsi, Silvia Barbi, Domenico Ronga
Publikováno v:
Agronomy, Vol 10, Iss 7, p 933 (2020)
A protein-based film (PBF), obtained from black soldier fly prepupae proteins, was assessed for its agronomic performance as mulch. PBF was investigated in a potting experiment and compared with Mater-Bi (MB), polyethylene (PE) and bare soil. During
Externí odkaz:
https://doaj.org/article/350bcf72f7584bcbac18f10a8b6353df
Autor:
Maria Novelli, Serena Galosi, Giovanna Zorzi, Simone Martinelli, Alessandro Capuano, Francesca Nardecchia, Tiziana Granata, Luca Pollini, Martina Di Rocco, Carlo Efisio Marras, Nardo Nardocci, Vincenzo Leuzzi
Publikováno v:
Parkinsonism & Related Disorders. :105405
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49d79e8a80d3a2dd1bbf632c0843a86f
https://doi.org/10.1016/j.parkreldis.2023.105405
https://doi.org/10.1016/j.parkreldis.2023.105405