Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Cancellieri, A."'
Autor:
Petr Knoth, Drahomira Herrmannova, Matteo Cancellieri, Lucas Anastasiou, Nancy Pontika, Samuel Pearce, Bikash Gyawali, David Pride
Publikováno v:
Scientific Data, Vol 10, Iss 1, Pp 1-19 (2023)
Abstract This paper introduces CORE, a widely used scholarly service, which provides access to the world’s largest collection of open access research publications, acquired from a global network of repositories and journals. CORE was created with t
Externí odkaz:
https://doaj.org/article/4f2aa02f22834dfba56eb52d9c778e30
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
Autor:
Yan Zhao, Tianhong Zhou, Timur Ashirov, Mario El Kazzi, Claudia Cancellieri, Lars P. H. Jeurgens, Jang Wook Choi, Ali Coskun
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
The development of lithium-metal batteries is limited by the low thermodynamic and/or low voltage stability of conventional electrolytes. Here, the authors combined the high voltage stability of fluorinated ethers with high Li+ solvation ability of e
Externí odkaz:
https://doaj.org/article/2a537ca63d4441baa53270fc016206eb
Autor:
Emanuele Cancellieri, Hedi Bel Hadj Brahim, Jaafar Ben Nasr, Tarek Ben Fraj, Ridha Boussoffara, Martina Di Matteo, Norbert Mercier, Marwa Marnaoui, Andrea Monaco, Maïlys Richard, Guido S. Mariani, Olivier Scancarello, Andrea Zerboni, Savino di Lernia
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract The late Middle Pleistocene, starting at around 300 ka, witnessed large-scale biological and cultural dynamics in hominin evolution across Africa including the onset of the Middle Stone Age that is closely associated with the evolution of ou
Externí odkaz:
https://doaj.org/article/75c0647fa5e54559ae145c368f29c006
Autor:
Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Inherited retinal dystrophies (IRDs) constitute one of the most heterogeneous groups of Mendelian human disorders. Using autozygome-guided next-generation sequencing methods in 17 consanguineous pedigrees of Iranian descent with isolated or
Externí odkaz:
https://doaj.org/article/45ebab2103354052b1c5d15d59bd2b73
Autor:
Federica Banfi, Alicia Rubio, Mattia Zaghi, Luca Massimino, Giulia Fagnocchi, Edoardo Bellini, Mirko Luoni, Cinzia Cancellieri, Anna Bagliani, Chiara Di Resta, Camilla Maffezzini, Angelo Ianielli, Maurizio Ferrari, Rocco Piazza, Luca Mologni, Vania Broccoli, Alessandro Sessa
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-21 (2021)
Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome characterized by severe intellectual and physical deficits due, at least in part, to early neurodegeneration. Here the authors introduce a human SGS model that displays disease-relevan
Externí odkaz:
https://doaj.org/article/9f82d3e4675e4ed291494e6ac2e0dfe7
Autor:
Lars Dörner, Claudia Cancellieri, Bastian Rheingans, Marc Walter, Ralf Kägi, Patrik Schmutz, Maksym V. Kovalenko, Lars P. H. Jeurgens
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Abstract CuO nanoparticles (NPs) are applied in various key technologies, such as catalysis, energy conversion, printable electronics and nanojoining. In this study, an economic, green and easy-scalable sol-gel synthesis method was adopted to produce
Externí odkaz:
https://doaj.org/article/d9799a1492ff4bb8aa3f3adf9f773b89
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Angelo Ianielli, Mattia Zaghi, Chiara Di Resta, Federica Banfi, Edoardo Bellini, Mirko Luoni, Luca Massimino, Rocco Piazza, Alicia Rubio, Alessandro Sessa, Anna Bagliani, Vania Broccoli, Giulia Fagnocchi, Cinzia Cancellieri, Maurizio Ferrari, Luca Mologni, Camilla Maffezzini
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-21 (2021)
Nature Communications
Nature Communications
The investigation of genetic forms of juvenile neurodegeneration could shed light on the causative mechanisms of neuronal loss. Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome caused by mutations in the SETBP1 gene, inducing the acc
Autor:
Pietro Giuseppe Mazzara, Luca Massimino, Marta Pellegatta, Giulia Ronchi, Alessandra Ricca, Angelo Iannielli, Serena Gea Giannelli, Marco Cursi, Cinzia Cancellieri, Alessandro Sessa, Ubaldo Del Carro, Angelo Quattrini, Stefano Geuna, Angela Gritti, Carla Taveggia, Vania Broccoli
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Schwann cells (SCs) myelinate peripheral nerve axons and offer opportunities for the treatment of injuries and demyelinating diseases but reliable and renewable sources of these cells are hard to come by. Here the authors reprogram rat, mouse and hum
Externí odkaz:
https://doaj.org/article/3e5822abc9d6496093cbde7fb6236024