Zobrazeno 1 - 10
of 801
pro vyhledávání: '"Sacchini P."'
Autor:
Agata Fiumara, Annamaria Sapuppo, Serena Gasperini, Viola Crescitelli, Michele Sacchini, Elena Procopio, Vincenza Gragnaniello, Alberto Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101126- (2024)
Introduction: Infantile-onset Pompe disease (IOPD) is due to mutations in the GAA gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy, macroglos
Externí odkaz:
https://doaj.org/article/4fd1c9f16efb4679995f2eedb5b44f11
Autor:
Simona Sacchini, Cristiano Bombardi
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
Externí odkaz:
https://doaj.org/article/898d2a17fa574940ad7a7976b45490e7
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
IntroductionThe amygdala is a noticeable bilateral structure in the medial temporal lobe and it is composed of at least 13 different nuclei and cortical areas, subdivided into the deep nuclei, the superficial nuclei, and the remaining nuclei which co
Externí odkaz:
https://doaj.org/article/7ee4ef230c5341a3a8d4dbe56c026058
Autor:
Emily C. Patterson, Gurdeep Matharu Lall, Rita Neumann, Barbara Ottolini, Chiara Batini, Federico Sacchini, Aiden P. Foster, Jon H. Wetton, Mark A. Jobling
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Background As a population genetic tool, mitochondrial DNA is commonly divided into the ~ 1-kb control region (CR), in which single nucleotide variant (SNV) diversity is relatively high, and the coding region, in which selective constraint i
Externí odkaz:
https://doaj.org/article/c7d3685ce1584fdf81c7529c7562562e
Autor:
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This
Externí odkaz:
https://doaj.org/article/0a5becd85d924dc1b04b318ba6f147bc
Autor:
Jean-Marie Graïc, Annamaria Grandis, Simona Sacchini, Claudio Tagliavia, Giulia Salamanca, Bruno Cozzi, Cristiano Bombardi
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
IntroductionThe entorhinal cortex has been shown to be involved in high-level cognitive functions in terrestrial mammals. It can be divided into two main areas: the lateral entorhinal area (LEA) and the medial entorhinal area (MEA). Understanding of
Externí odkaz:
https://doaj.org/article/728d439296dc45459201336de795f60a
Autor:
Mirko Sacchini
Publikováno v:
Studi Slavistici, Vol 20, Iss 2 (2024)
Book Review
Externí odkaz:
https://doaj.org/article/b3dd1872f0b54ff78452994b5902ea39
Autor:
Vitomir Djokic, Luca Freddi, Fabrizio de Massis, Elina Lahti, Marielle H. van den Esker, Adrian Whatmore, Anna Haughey, Ana Cristina Ferreira, Giuliano Garofolo, Falk Melzer, Flavio Sacchini, Ad Koets, Stephen Wyllie, Alain Fontbonne, Guillaume Girault, Acacia Ferreira Vicente, John McGiven, Claire Ponsart
Publikováno v:
Emerging Microbes and Infections, Vol 12, Iss 2 (2023)
The zoonotic bacteria, Brucella canis, is becoming the leading cause of canine brucellosis in Europe. In dogs, it causes reproductive problems as well as non-specific lameness or discospondilitis. In humans, B. canis can be origin of chronic debilita
Externí odkaz:
https://doaj.org/article/e20ae6e65f0a4e9c83e6ee78665e3087
Autor:
Francesca Leoni, Luca Sacchini, Silvia Pieralisi, Gabriele Angelico, Chiara Francesca Magistrali, Lucilla Cucco, Francesca Romana Massacci, Elisa Albini, Anna Duranti, Cesare Cammà, Barbara Secondini, Antonio Rinaldi, Francesca Barchiesi
Publikováno v:
Frontiers in Microbiology, Vol 14 (2023)
The spread of extended-spectrum β-lactamase (ESBL)-producing Escherichia coli is a major public health issue. Bivalves are filter-feeder animals capable of bioaccumulating the microorganisms present in water. This physiological characteristic makes
Externí odkaz:
https://doaj.org/article/430b0e27ed1d4a009e37891a066c5ec3
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