Zobrazeno 1 - 10
of 2 161
pro vyhledávání: '"A. Dardis"'
Autor:
A. Dardis, H. Michelakakis, P. Rozenfeld, K. Fumic, J. Wagner, E. Pavan, M. Fuller, S. Revel-Vilk, D. Hughes, T. Cox, J. Aerts, the International Working Group of Gaucher Disease (IWGGD)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-17 (2022)
Abstract Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive lysosomal accumulation of glucosylceramide (GlcCer) and its dea
Externí odkaz:
https://doaj.org/article/b446cd8c239842e9a8d37b8ab7ef865e
Neural Ordinary Differential Equations (ODEs) was recently introduced as a new family of neural network models, which relies on black-box ODE solvers for inference and training. Some ODE solvers called adaptive can adapt their evaluation strategy dep
Externí odkaz:
http://arxiv.org/abs/2211.06972
Autor:
Luke N. Carter, Victor M. Villapún, James Andrews, Thomas R.B. Grandjean, John Dardis, Sophie C. Cox
Publikováno v:
Additive Manufacturing Letters, Vol 11, Iss , Pp 100252- (2024)
Quality assurance remains a significant challenge for laser powder bed fusion and metal additive manufacturing. Despite system manufacturers offering process monitoring as a possible solution, datasets are large and cumbersome with practical use limi
Externí odkaz:
https://doaj.org/article/7364cf01cf484e74a197929f767a35fc
Autor:
Bond, Simon, Bordugo, Andrea, Brodosi, Lucia, Camilot, Marta, Carubbi, Francesca, Dardis, Andrea, Dianin, Alice, Vici, Carlo Dionisi, Donati, Maria Alice, Fasan, Ilaria, Federico, Antonio, Filosto, Massimiliano, Gasperini, Serena, La Marca, Giancarlo, Martinelli, Diego, Noto, Davide, Spada, Marco, Toscano, Antonio, Vitturi, Nicola, Sechi, Annalisa, Urban, Maria Letizia, Murphy, Elaine, Pession, Andrea, Scarpa, Maurizio
Publikováno v:
In Nutrition, Metabolism and Cardiovascular Diseases November 2024 34(11):2440-2445
Autor:
Remani, Afaf, Rossi, Arianna, Peña, Fernando, Thompson, Adam, Dardis, John, Jones, Nick, Senin, Nicola, Leach, Richard
Publikováno v:
In Additive Manufacturing 25 June 2024 90
Autor:
Dardis, Anthony1 (AUTHOR) anthony.b.dardis@hofstra.edu
Publikováno v:
Acta Analytica. Mar2024, Vol. 39 Issue 1, p19-36. 18p.
Autor:
Macarena Las Heras, Benjamín Szenfeld, Rami A. Ballout, Emanuele Buratti, Silvana Zanlungo, Andrea Dardis, Andrés D. Klein
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-13 (2023)
Abstract Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC patients can present w
Externí odkaz:
https://doaj.org/article/32dbaaaf5f05426697b283303572d116
Autor:
Sara J. Maksi, Kathleen L. Keller, Frank Dardis, Martina Vecchi, Jason Freeman, Rebecca K. Evans, Emma Boyland, Travis D. Masterson
Publikováno v:
Frontiers in Nutrition, Vol 10 (2024)
Digital marketing to children, teens, and adults contributes to substantial exposure to cues and persuasive messages that drive the overconsumption of energy dense foods and sugary beverages. Previous food marketing research has focused on traditiona
Externí odkaz:
https://doaj.org/article/52bd56f1bf294382b494d490d51122ac
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101010- (2023)
Neuropathic pain is one of the most invalidating symptoms in patients with Fabry disease (FD), affecting their quality of life, it is linked to small fiber neuropathy and it may not respond to available disease specific treatments. We report the case
Externí odkaz:
https://doaj.org/article/e9df6b507bdf4f1ab743794121ca926e
Autor:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27